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Gene: Nobox MGI:108011

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Gene Summary

Name:
NOBOX oogenesis homeobox
Synonyms:
Og2x

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 embryo size Noboxtm1.1(KOMP)Vlcg HET E9.5 0.00
preweaning lethality, incomplete penetrance Noboxtm1.1(KOMP)Vlcg HOM   Early adult 0.00
embryonic growth retardation Noboxtm1.1(KOMP)Vlcg HET E9.5 0.00
hyperactivity Noboxtm1.1(KOMP)Vlcg HET Early adult 1.95×10-08
abnormal seminal vesicle morphology Noboxtm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased fasting circulating glucose level Noboxtm1.1(KOMP)Vlcg HET Early adult 8.10×10-05

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Bone  Section images heterozygote 100% (1 of 1)
Brain  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

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

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Adult LacZ

LacZ Images Section

11 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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Gross Pathology and Tissue Collection

Images

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Histopathology

Images

1 Images

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Human diseases caused by Nobox 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 Nobox by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea, Decreased fertility ORPHA:1643
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... OMIM:300510
Premature Ovarian Failure 10
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... OMIM:612885
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:612310
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... OMIM:619834
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
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... ORPHA:2795
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... ORPHA:1646
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Functioning Gonadotropic Adenoma
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... ORPHA:91348
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Polycystic ovaries, Hyperinsulinemia ORPHA:79084
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes mellitus, Pol... ORPHA:3085
Ovarian Dysgenesis 3
Aplasia of the ovary, Delayed puberty, Female infertility, Elevated circulating luteinizing hormo... OMIM:614324
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... OMIM:614841
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Hyperprolactinemia
Increased circulating prolactin concentration, Female infertility, Menorrhagia, Oligomenorrhea OMIM:615555
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Hypogonadotropic Hypogonadism 25 With Anosmia
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... OMIM:618841
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... ORPHA:168563
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... OMIM:615363
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614129
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondar... OMIM:268020
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... ORPHA:90796
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... ORPHA:79085
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Incr... ORPHA:1227
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
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 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Preeclampsia
Polycystic ovaries, Type I diabetes mellitus ORPHA:275555
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Abnormal va... OMIM:194072
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
Lipodystrophy, Familial Partial, Type 3
Primary amenorrhea, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Polycystic ov... OMIM:604367
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Ataxia-Telangiectasia
Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Type II diabetes mellitus, Diabetes... ORPHA:100
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Distal Monosomy 10P
Polycystic ovaries, Hypoplasia of penis, Cryptorchidism ORPHA:1580
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... ORPHA:399805
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Isosexual precocious puberty, Ambiguous genitalia, Premature thelarche, P... ORPHA:90795
46,Xx Gonadal Dysgenesis
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... ORPHA:243
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Primary amenorrhea, Impotence, Secondary amenorrhea, Decreased testicular si... ORPHA:432
Frasier Syndrome
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... ORPHA:347
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Decreased serum leptin, Polycystic ovaries, Decreased adiponect... ORPHA:435660
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal... ORPHA:457059
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... ORPHA:66628
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Nephrogenic diabete... ORPHA:3130
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, Diabetes mellitus, Polycystic ov... ORPHA:528
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... ORPHA:64739
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... ORPHA:2235
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... OMIM:610475
Pparg-Related Familial Partial Lipodystrophy
Primary amenorrhea, Secondary amenorrhea, Maternal diabetes, Diabetes mellitus, Polycystic ovarie... ORPHA:79083
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Ovarian Fibrothecoma
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... ORPHA:314478
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Donohue Syndrome
Hyperinsulinemia, Precocious puberty, Long penis, Pancreatic islet-cell hyperplasia, Ovarian cyst... OMIM:246200
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Gonadal dysgenesis ORPHA:1770
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... ORPHA:1916
Congenital Fibrinogen Deficiency
Decreased testicular size, Hemorrhagic ovarian cyst, Micropenis ORPHA:335
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... ORPHA:1772
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Familial Partial Lipodystrophy, Dunnigan Type
Dysmenorrhea, Polycystic ovaries, Diabetes mellitus, Secondary amenorrhea ORPHA:2348
Cowden Syndrome 6
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Varicocele, Ovarian cyst, Thyroid... OMIM:615109
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Cowden Syndrome 5
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... OMIM:615108
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries OMIM:616831
Primary Lipodystrophy
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia ORPHA:90970
Estrogen Resistance Syndrome
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... ORPHA:785
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Aromatase Deficiency
Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me... ORPHA:91
Mccune-Albright Syndrome
Decreased fertility, Macroorchidism, Increased circulating prolactin concentration, Precocious pu... ORPHA:562
Cowden Syndrome 1
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Varicocele, Ovarian carcinoma, Ov... OMIM:158350
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Ovarian cyst, Endometrial carcinoma ORPHA:454840
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary amenorrhea, Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased ser... ORPHA:2232
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Hypogonadism, Hypoplasia of penis, Hypoplasia of the ovary, Cryptor... ORPHA:110
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Streak ovary, Decreased serum estradiol,... ORPHA:572333
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617113
Cystic Echinococcosis
Renal cyst, Ovarian cyst, Hepatic cysts, Abnormality of the testis size ORPHA:400
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Irregular menstruation, Delayed puberty, Polycystic ovaries, Oligomenorrhea, Dysmenorrhea ORPHA:370
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Peutz-Jeghers Syndrome
Uterine neoplasm, Ovarian cyst, Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor OMIM:175200
Short Syndrome
Ovarian cyst, Insulin-resistant diabetes mellitus OMIM:269880
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level... OMIM:110100
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Dysmenorrhea, Polycystic ovaries, Oligomenorrhea ORPHA:79240
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Polycystic ovaries, Premature thelarche, Type I diabetes mellitus ORPHA:371428
Proteus-Like Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia ORPHA:2969
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormality of the ovary, Hypoplasia of the uterus, Primary a... ORPHA:247768
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Delayed puberty, Polycystic ovaries, Oligomenorrhea, Dysmenorrhea ORPHA:264580
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... ORPHA:95699
Carney Complex
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... ORPHA:1359
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Polycystic ovaries, Abnormality of the adrenal glands ORPHA:2176
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Acquired Generalized Lipodystrophy
Polycystic ovaries, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:79086
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Ovarian serous cystadenoma ORPHA:276280
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Secondary amenorrhea, Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Di... ORPHA:280365
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hyperthyroidism, Increased circulating cortisol level, Thyroid car... ORPHA:249
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty,... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Decreased fertility in females, Hyperinsulinemia, Insulin-resistant diabetes... OMIM:269700
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Increased serum testosterone level, Enlarged polycystic ovaries, Diabetic ketoa... ORPHA:2298
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
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Multiple renal cysts, Enlarged polycystic ovaries, Cervix cancer ORPHA:2869
Hyperparathyroidism, Transient Neonatal
Ovarian cyst, Hyperparathyroidism OMIM:618188
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility, Mitochondrial hypertrophy OMIM:619518
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Labial pseudohypertrophy, Type II diabetes mellitus, Polycystic ovaries, Insuli... OMIM:151660
Chromosome 17Q12 Deletion Syndrome
Unicornuate uterus, Multicystic kidney dysplasia, Renal cyst, Aplasia of the uterus, Urethral ste... OMIM:614527
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... OMIM:201750
Hypoplasminogenemia
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Orofaciodigital Syndrome I
Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts OMIM:311200
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Hypothyroidism, Thyroiditis, Polycystic ovaries, Delayed puberty, Menorrh... ORPHA:79259
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries ORPHA:137675
Leopard Syndrome 1
Aplasia of the ovary, Hypoplasia of the ovary, Hypospadias, Delayed puberty, Cryptorchidism, Micr... OMIM:151100
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Hypospadias, Gonadal dysgenesis, Cryptorchidism, Streak ovary, Uterus d... OMIM:618820
Rabson-Mendenhall Syndrome
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Diabetic ketoacidosis, Lo... ORPHA:769
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Neonatal hypoglycemia OMIM:617600
Cowden Syndrome
Enlarged polycystic ovaries, Adenoma sebaceum, Abnormality of the uterus, Neoplasm of the thyroid... ORPHA:201
Digeorge Syndrome
Hypothyroidism, Hypoplasia of the thymus, Hydrocele testis, Abnormality of the thymus, Parathyroi... OMIM:188400
Histidinemia
Hyperactivity ORPHA:2157
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Hypoplasia of the ovary, Micropenis OMIM:619321
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Alg9-Cdg
Hepatic cysts, Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus ORPHA:79328
Bardet-Biedl Syndrome 1
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Nephrogenic diabetes insipidus... OMIM:209900
Opitz Gbbb Syndrome
Bicornuate uterus, Bifid scrotum, Shawl scrotum, Thyroglossal cyst, Hypospadias, Cryptorchidism, ... ORPHA:2745
Williams Syndrome
Hypothyroidism, Precocious puberty, Functional abnormality of male internal genitalia, Type II di... ORPHA:904
Leprechaunism
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Labial hypertrophy, Increased circu... ORPHA:508
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Secondary amenorrhea, Prematur... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Secondary amenorrhea, Prematur... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Secondary amenorrhea, Prematur... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Gonadoblastoma, Hyperinsulinemia, Secondary amenorrhea, Prematur... ORPHA:99226
Limb-Mammary Syndrome
Aplasia of the ovary, Absent nipple, Breast aplasia, Aplasia of the uterus, Primary amenorrhea, H... ORPHA:69085
Proteus Syndrome
Macroorchidism, Diabetes insipidus, Neoplasm of the thymus, Enlarged polycystic ovaries, Long pen... ORPHA:744
Alström Syndrome
Precocious puberty in females, Irregular menstruation, Hyperinsulinemia, Elevated circulating thy... ORPHA:64
Schinzel-Giedion Syndrome
Central hypothyroidism, Renal cyst, Hypospadias, Annular pancreas, Streak ovary, Micropenis ORPHA:798

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 Nobox

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 Nobox.

No publications found that use IMPC mice or data for Nobox.

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MGI Allele Allele Type Produced
Noboxtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Noboxtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Noboxtm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Noboxtm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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