Gene Summary

Name:
expressed sequence AU040320
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology AU040320em1(IMPC)J HOM Late adult 6.57×10-12
decreased lean body mass AU040320em1(IMPC)J HOM Late adult 3.95×10-05
male infertility AU040320em1(IMPC)J HOM Early adult 0.00
abnormal retina morphology AU040320em1(IMPC)J HOM Early adult 1.68×10-07
abnormal coat/hair pigmentation AU040320em1(IMPC)J HOM Late adult 3.47×10-05
decreased grip strength AU040320em1(IMPC)J HOM Late adult 1.06×10-09
hyperactivity AU040320em1(IMPC)J HOM Early adult 3.94×10-07
increased exploration in new environment AU040320em1(IMPC)J HOM   Late adult 7.59×10-08
decreased bone mineral content AU040320em1(IMPC)J HOM Early adult 4.50×10-06
hyperactivity AU040320em1(IMPC)J HOM Late adult 8.32×10-09
absent vibrissae AU040320em1(IMPC)J HOM   Late adult 1.93×10-05
decreased bone mineral density AU040320em1(IMPC)J HOM Early adult 2.37×10-05
increased total body fat amount AU040320em1(IMPC)J HOM Late adult 3.24×10-05
impaired righting response AU040320em1(IMPC)J HOM Late adult 8.83×10-07
limb grasping AU040320em1(IMPC)J HOM Late adult 2.79×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Ophthalmoscopy

14 Images

Electrocardiogram (ECG)

Waveform Image

18 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by AU040320 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to AU040320 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Limited Cutaneous Systemic Sclerosis
Foot joint contracture, Abnormality of skin pigmentation, Joint contracture of the hand, Hypopigm... ORPHA:220402

The table below shows human diseases predicted to be associated to AU040320 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... ORPHA:529970
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... ORPHA:98798
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Multiflagellar spermatozoa OMIM:620103
Spermatogenic Failure 2
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia OMIM:108420
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... ORPHA:488191
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Non-ob... ORPHA:399805
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619949
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Young Syndrome
Azoospermia OMIM:279000
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:616950
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Azoospermia OMIM:615703
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A... ORPHA:320391
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... ORPHA:261529
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Decreased female libido, Decreased testicular size, Oligomenorrhea, Azoosper... ORPHA:52901
Osteomesopyknosis
Increased bone mineral density, Infertility OMIM:166450
Spermatogenic Failure 28
Decreased testicular size, Male infertility, Non-obstructive azoospermia OMIM:618086
Schizophrenia 15
Hyperactivity OMIM:613950
Spermatogenic Failure 14
Male infertility, Azoospermia, Late spermatogenesis maturation arrest OMIM:615842
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Infertility, Azoospermia, Primary amenorrhea OMIM:229070
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Premature graying of hair, Optic atrophy, Aplasia/Hypoplasia of the... ORPHA:33445
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplasia of the ovary,... OMIM:612885
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Adrenal Hypoplasia, Congenital
Precocious puberty, Azoospermia, Oligospermia, Cryptorchidism, Hypogonadotropic hypogonadism OMIM:300200
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm OMIM:614874
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
47,Xyy Syndrome
Macroorchidism, Azoospermia, Oligospermia, Hypospadias, Male infertility, Varicocele, Cryptorchid... ORPHA:8
Familial Hyperprolactinemia
Female hypogonadism, Infertility, Osteopenia, Menorrhagia, Oligomenorrhea, Osteoporosis, Amenorrhea ORPHA:397685
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Albinism, Oculocutaneous, Type Iv
Albinism, Macular hypoplasia, Hypopigmentation of hair, Hypopigmentation of the fundus, Blue irides OMIM:606574
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Large for gestational age ORPHA:356996
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Optic atrophy, Frontal upsweep of hair, Ataxia, Tremor OMIM:300983
Hypogonadism-Cataract Syndrome
Male hypogonadism, Infertility, Hypogonadism OMIM:240950
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypo... OMIM:614837
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus OMIM:606952
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... OMIM:613807
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Small nail, Optic atrophy, Elbow flexion contracture, Tremor OMIM:619470
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypopigmentation o... OMIM:126070
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Woolly Hair
Sparse body hair, Abnormal retinal morphology, Sparse lateral eyebrow, Brittle hair, Fine hair, W... ORPHA:170
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Silver-gray hair, Melan... OMIM:607624
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Azoospermia, Male hypo... OMIM:228300
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Impotence, Enlarged polycystic ovaries, Decreased female libido, In... ORPHA:91348
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Micropenis OMIM:614897
Ciliary Dyskinesia, Primary, 15
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm OMIM:613808
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Amenorrhea, Hypogonadism, Oligomenorrhea ORPHA:91351
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Coffin-Siris Syndrome 8
Hyperactivity, Aggressive behavior, Sparse scalp hair, Self-injurious behavior, Long eyelashes, I... OMIM:618362
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Iris transillumination defect, Hypopigmentation of hair, Hypoplasia... OMIM:619165
Maternal Uniparental Disomy Of Chromosome X
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Azoo... ORPHA:261519
Lead Poisoning
Decreased female libido, Infertility, Abnormality of the menstrual cycle, Reduced sperm motility,... ORPHA:330015
48,Xyyy Syndrome
Male hypogonadism, Azoospermia ORPHA:99329
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Hypopigmentation of the skin, Iris hypopigmentation, Happy demeanor, Ataxia, Hypop... ORPHA:411515
Morm Syndrome
Hyperactivity, Aggressive behavior, Retinal atrophy, Retinal dystrophy, Truncal obesity ORPHA:75858
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia OMIM:234500
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... ORPHA:90797
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Male infertility, Male pseudohermaphroditis... ORPHA:754
Classic Phenylketonuria
Hypopigmentation of the skin, Self-injurious behavior, Motor deterioration, Hypopigmentation of h... ORPHA:79254
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis, Optic atrop... OMIM:239100
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Ring Chromosome 21 Syndrome
Infertility, Azoospermia, Amenorrhea ORPHA:1445
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Mental deterioration, Dystonia OMIM:615924
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin, Athetosis OMIM:257800
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Guanidinoacetate Methyltransferase Deficiency
Chorea, Hyperactivity, Aggressive behavior, Self-injurious behavior, Ataxia, Athetosis, Dystonia ORPHA:382
Phenylketonuria
Hyperactivity, Aggressive behavior, Generalized hypopigmentation, Fair hair, Attention deficit hy... OMIM:261600
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:619031
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology ORPHA:2786
Juvenile Huntington Disease
Gait ataxia, Chorea, Hyperactivity, Weight loss, Dementia, Ataxia, Progressive cerebellar ataxia,... ORPHA:248111
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Ovotestis, Clito... OMIM:400045
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Infertility, Oligospermia, Female pseudohermaphroditism,... ORPHA:786
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... OMIM:278850
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Hypopigmentation of the skin, Increased adipose tissue, Failure ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Hypopigmentation of the skin, Increased adipose tissue, Failure ... ORPHA:71526
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism ORPHA:280679
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperactivity, Cognitive impairment, Reduced intraabdominal adipose tissue, Reduced ... ORPHA:363400
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Cognitive impairment, Sparse scalp hair, Premature graying of hair, ... ORPHA:3437
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Aggressive behavior, Small for gestational age, Failure to thrive, An... OMIM:609425
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612716
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hai... OMIM:256710
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Impulsivity, Irritability, Restlessness OMIM:605899
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Azoospermia, Testicular atrophy, Cryptorchidism, Hypogonadotropic hypo... OMIM:308700
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Abnormal macular morphology, Synophrys, W... ORPHA:897
Alazami-Yuan Syndrome
Hyperactivity, Synophrys, Long eyelashes, Hirsutism, Thick eyebrow, Highly arched eyebrow, Low an... OMIM:617126
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism OMIM:300845
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular size, Increased female... ORPHA:432
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Ataxia, Hypopigmented skin patches, Hyp... ORPHA:2885
Hemochromatosis, Type 1
Impotence, Azoospermia, Testicular atrophy, Hypogonadotropic hypogonadism, Amenorrhea OMIM:235200
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Primary amenorrhea, Abnormal vagina morphology, Abnormality ... ORPHA:251510
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Griscelli Syndrome Type 1
Retinopathy, Premature graying of hair, Iris hypopigmentation, Ataxia, White hair, Partial albinism ORPHA:79476
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia OMIM:617113
49,Xyyyy Syndrome
Abnormality of the testis size, External genital hypoplasia, Decreased testicular size, Azoosperm... ORPHA:99330
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Hypogonadism, Abnormal testis morphology, Oligospermia, Male infertility ORPHA:85450
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Resting tremor, Abnor... ORPHA:3077
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Recurrent fractures, Posterior vitreous detachm... OMIM:133780
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... ORPHA:79435
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Chorea, Ataxia, Failure to thrive, Hypopigmentation of hair, Progressive neurologic deterioration... ORPHA:70472
Gapo Syndrome
Oligospermia, Dysmenorrhea, Amenorrhea, Hypogonadism ORPHA:2067
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Ataxia-Telangiectasia
Cognitive impairment, Premature graying of hair, Ataxia, Failure to thrive, Hypopigmentation of h... ORPHA:100
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Polyphagia, Obesity ORPHA:177910
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Oculocutaneous Albinism Type 1
Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... ORPHA:352731
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Male inferti... ORPHA:99429
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyelashes, White eyebrow, Ataxia, Hypopigmented skin patches, Wh... OMIM:277580
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Chorea, Hyperactivity, Aggressive behavior, Impaired pain sensation, Impulsivity, Dy... ORPHA:500180
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Chromosome Xq25 Duplication Syndrome
Sparse eyebrow, Hyperactivity, Anxiety, Thick eyebrow, Highly arched eyebrow OMIM:300979
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting, Attention deficit hyper... OMIM:619827
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Landau-Kleffner Syndrome
Gait ataxia, Hyperactivity, Aggressive behavior, Social and occupational deterioration, Emotional... ORPHA:98818
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Clitoral hypoplasia OMIM:614813
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypogonadism ORPHA:300298
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Piebaldism
Piebaldism, Synophrys, White eyelashes, White eyebrow, Ataxia, Hypopigmented skin patches, White ... ORPHA:2884
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... ORPHA:79239
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased testicular size, Decreased fertility in males, Azoospermia... ORPHA:90791
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Rod-cone dystrophy, Hernia, Motor deterioration, Synophrys, Coarse hair, Hirsutism... OMIM:252930
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Hypopigmentation of the skin, Iris hypopigmentation, Happy demeanor, Ataxia, Hypop... ORPHA:98794
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Aggressive behavior, Synophrys, Ataxia, Failure to thrive, Impulsivity, Hirsutism,... OMIM:616977
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Happy demeanor, Ataxia, Hypopigmentation of ... ORPHA:411511
Waardenburg Syndrome Type 1
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... ORPHA:894
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased fertility, Irregular menstruation, Precocious puberty in females, Bifid scrotum, Bilate... ORPHA:90793
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Chorea, Hyperactivity, Dysdiadochokinesis, Optic atrophy, Emotional lability, Impuls... OMIM:610217
2Q23.1 Microdeletion Syndrome
Hyperactivity, Self-injurious behavior, Synophrys, Ataxia, Polyphagia, Generalized hirsutism, Hig... ORPHA:228402
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Fair hair, Blue irides, Red hair, Obesity OMIM:614613
Cln5 Disease
Hyperactivity, Aggressive behavior, Anxiety, Dysdiadochokinesis, Truncal ataxia, Ataxia, Dysmetri... ORPHA:228360
Bloom Syndrome
Premature ovarian insufficiency, Oligospermia, Male infertility, Azoospermia ORPHA:125
Squalene Synthase Deficiency
Knee flexion contracture, Abnormality of hair pigmentation, Elbow flexion contracture, Optic nerv... OMIM:618156
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Ovot... ORPHA:1772
Infantile Neuroaxonal Dystrophy
Hyperactivity, Flexion contracture, Optic atrophy, Choking episodes, Psychomotor deterioration, E... ORPHA:35069
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Anxiety, Obesity OMIM:301013
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Aggressive behavior, Hyperactivity, Choreoathetosis, Self-injurious behavior OMIM:620023
Aromatase Deficiency
Enlarged polycystic ovaries, Ambiguous genitalia, female, Female pseudohermaphroditism, Female in... ORPHA:91
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Onycholysis, Polyphagia, Irritability OMIM:275000
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest, Ataxia OMIM:172850
8P11.2 Deletion Syndrome
Hypogonadism, Hypoplasia of penis, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:251066
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Weight loss, Fine hair, Hypopigmentation of hair, Generalized hirsutism ORPHA:2221
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Synophrys, Hirsutism, Progressive neurologic deterioration, C... OMIM:252920
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Testicular adrenal rest tumor, Azoospermia, Cryptorchi... ORPHA:361
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Aggressive behavior, Contracture of the proximal interphalangeal joint of the 5th ... OMIM:620141
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
X-Linked Creatine Transporter Deficiency
Chorea, Hyperactivity, Cachexia, Ataxia, Athetosis, Dystonia, Self-mutilation ORPHA:52503
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased fertility, Primary amenorrhea, Ambiguous genitalia, Abnormality of female external geni... ORPHA:95699
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Sparse scalp hair, Corneal scarring, Emotional lability, Nail dystrophy, Nail dysp... OMIM:256800
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Osteopenia OMIM:608747
Carney Complex
Leydig cell neoplasia, Macroorchidism, Precocious puberty, Abnormal sperm motility, Testicular ad... ORPHA:1359
Angelman Syndrome
Hyperactivity, Aggressive behavior, Hypopigmentation of the skin, Self-injurious behavior, Anxiet... ORPHA:72
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Synophrys, Inguinal hernia, Hirsutism, Coarse hair, Umbilical hernia OMIM:252900
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Hypopigmentation of hair, Hypoplasia of the fovea, White hair, Blue ir... OMIM:203100
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Hyperactivity, Aggressive behavior, Cognitive impairment, Dementia, ... ORPHA:43
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety, Slender build OMIM:617600
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... ORPHA:999
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididymal cyst, Hypospadias, Hy... OMIM:137920
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Generalized h... ORPHA:3322
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Hyperactivity, Small nail, Hernia, Aplasia/Hypoplasia of the eyebrow, Abnormal... OMIM:617052
Diphallia
Abnormal spermatogenesis, Bifid scrotum, Penoscrotal transposition, Rectoperineal fistula, Ectopi... ORPHA:227
Chediak-Higashi Syndrome
Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Macular hypoplas... OMIM:214500
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia ORPHA:228123
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Attention deficit hyperactivity disorder, Progressive... OMIM:610042
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Flexion contracture, Cognitive impairment, Failure to thrive, Impul... ORPHA:398069
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Cognitive impairment, Trichorrhex... ORPHA:238468
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Blepharospasm, Optic atrophy, Retinal degeneration, Choreoathetosis, Dementia, Ata... OMIM:234200
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227650
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Obesity, Polyphagia OMIM:609734
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Failure to thrive, Hypopigmentation of hair, Polyphagia, Skin-picki... ORPHA:398079
Tetrasomy 9P
Infertility, Lissencephaly, Oligospermia, Pachygyria, Cryptorchidism, Micropenis, Polymicrogyria ORPHA:3310
Waardenburg Syndrome
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... ORPHA:3440
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... OMIM:203300
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Dysphagia ORPHA:98795
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ocular albinism, Choroideremia, Iris hypopigmentation, Ataxia, Inguinal hernia, Hypopigmentation ... ORPHA:2719
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Self-injurious behavior, Small for gestational age, Bulimia, Iris h... ORPHA:98754
Brittle Cornea Syndrome
Hernia, Abnormality of hair pigmentation, Corneal scarring, Camptodactyly, Retinal detachment ORPHA:90354
Brittle Cornea Syndrome 1
Red hair, Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Self-injurious behavior, Small for gestational age, Bulimia, Iris h... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of the skin, Self-injurious behavior, Small for gestational age, Bulimia, Iris h... ORPHA:177904
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of the skin, Self-injurious behavior, Small for gestational age, Bulimia, Iris h... ORPHA:177901
Carney Complex, Type 1
Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair OMIM:160980
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot OMIM:618541
Prader-Willi Syndrome
Hypopigmentation of the skin, Self-injurious behavior, Generalized hypopigmentation, Frontal upsw... OMIM:176270
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... ORPHA:3214
Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Self-injurious behavior, Small for gestational age, Bulimia, Iris h... ORPHA:398073
Chédiak-Higashi Syndrome
Somatic sensory dysfunction, Hypopigmentation of the skin, Cognitive impairment, Iris hypopigment... ORPHA:167
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Weight loss, Small for gestational age, Hand tremor, Agitation ORPHA:424
Hermansky-Pudlak Syndrome
Hypopigmentation of the skin, Melanocytic nevus, Weight loss, Ocular albinism, Iris hypopigmentat... ORPHA:79430
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Thick eyebrow, Emotional lability OMIM:620047
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity, Hand tremor, Agitation ORPHA:99819
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of the skin, Head-banging, Iris hypopigmentation, Happy demeanor, Hypopigmentati... ORPHA:177907
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture, Overfriendliness, Abnormal dental enamel m... ORPHA:96169
Vici Syndrome
Hypopigmentation of the skin, Ocular albinism, Albinism, Macular hypoplasia, Macular atrophy, Fai... OMIM:242840
Choreoacanthocytosis
Blepharospasm, Hair-pulling, Limb dystonia, Self-mutilation of tongue and lips due to involuntary... ORPHA:2388
Legius Syndrome
Multiple lipomas, Hyperactivity, Cognitive impairment, Attention deficit hyperactivity disorder, ... ORPHA:137605
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Premature graying of hair, Ataxia, Hypopigmented skin patches, Hypop... ORPHA:163746
Prader-Willi Syndrome
Hypopigmentation of the skin, Failure to thrive, Hypopigmentation of hair, Attention deficit hype... ORPHA:739
Hereditary Sensory And Autonomic Neuropathy Type 4
Somatic sensory dysfunction, Hyperactivity, Abnormal emotion/affect behavior, Corneal scarring, F... ORPHA:642
Syndromic Diarrhea
Cafe-au-lait spot, Trichorrhexis nodosa, Generalized hypopigmentation, Brittle hair, Small for ge... ORPHA:84064
Menkes Disease
Chorea, Hernia, Woolly hair, Inguinal hernia, Hypopigmentation of hair, Atypical scarring of skin... ORPHA:565
Cystinosis, Nephropathic
Hypopigmentation of the skin, Retinopathy, Weight loss, Retinal pigment epithelial mottling, Hypo... OMIM:219800
Cystic Fibrosis
Male infertility OMIM:219700
Histidinemia
Hyperactivity ORPHA:2157
Degcags Syndrome
Hypopigmentation of the skin, Abnormal eyebrow morphology, Abnormality of skin pigmentation, Prem... OMIM:619488
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Optic atrophy, Congenital diaphragmatic hernia, Hypopigmentation of hair... ORPHA:818
Noonan Syndrome 1
Hypospadias, Male infertility, Hypogonadism, Cryptorchidism OMIM:163950
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Fair hair, Blue irides, Red hair, Obesity ORPHA:280651
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair ORPHA:1974
Alström Syndrome
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Hyoplasia of the Leyd... ORPHA:64
Limited Cutaneous Systemic Sclerosis
Foot joint contracture, Abnormality of skin pigmentation, Joint contracture of the hand, Hypopigm... ORPHA:220402

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for AU040320

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to AU040320.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice. Scientific reports (July 2018) AU040320tm1b(EUCOMM)Wtsi PMC6039479
Knockout Mice for Dyslexia Susceptibility Gene Homologs KIAA0319 and KIAA0319L have Unaffected Neuronal Migration but Display Abnormal Auditory Processing. Cerebral cortex (New York, N.Y. : 1991) (December 2017) AU040320tm1c(EUCOMM)Wtsi AU040320tm1a(EUCOMM)Wtsi AU040320tm1d(EUCOMM)Wtsi AU040320tm1b(EUCOMM)Wtsi PMC5939205

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
AU040320em1(IMPC)J Exon Deletion Mice
AU040320tm497(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
AU040320tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
AU040320tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
AU040320tm497(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter