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Gene: Dhcr24 MGI:1922004

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Gene Summary

Name:
24-dehydrocholesterol reductase
Synonyms:
2310076D10Rik,  3-beta-hydroxysterol delta-24 reductase,  seladin-1,  5830417J06Rik

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 behavior Dhcr24tm1a(EUCOMM)Wtsi HET   Early adult 7.32×10-05

Download data as:  TSV  XLS

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

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland 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 0.0% (0 of 2)
Skeletal muscle tissue 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 Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Ambiguous
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 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%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 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)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Dhcr24tm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Dhcr24tm1a(EUCOMM)Wtsi
forearm, HET, Male, WTSI
Dhcr24tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Dhcr24tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Dhcr24tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI

View all 158 images

Dhcr24tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Dhcr24tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Dhcr24tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Dhcr24 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 Dhcr24 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Desmosterolosis
Rhizomelia, Ambiguous genitalia, female, Joint contracture of the hand, Abnormal circulating chol... OMIM:602398
Desmosterolosis
Ambiguous genitalia, Failure to thrive, Severe short stature, Growth delay, Intrauterine growth r... ORPHA:35107

The table below shows human diseases predicted to be associated to Dhcr24 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ring Chromosome Y Syndrome
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno... ORPHA:261529
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea OMIM:300604
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
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... ORPHA:488191
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Bilateral cryptorchidism, Male infertility OMIM:261550
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Hyperprolactinemia
Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
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
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Growth delay, Hypocholes... OMIM:246700
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
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 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
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
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
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
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... ORPHA:98798
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
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
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 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
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Progesterone Resistance
Female infertility OMIM:264080
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Short stature, Failure to thrive, Delayed puberty, Decre... OMIM:616834
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Glycogen Storage Disease Vi
Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Postnat... OMIM:232700
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... ORPHA:529970
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 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
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 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 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Squalene Synthase Deficiency
Knee flexion contracture, Decreased LDL cholesterol concentration, Abnormality of hair pigmentati... OMIM:618156
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
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 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
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 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Obesity, Oligospermia, Increased LDL cholesterol concentration, Decreas... OMIM:615703
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Androgen Insensitivity Syndrome
Sparse axillary hair, Ambiguous genitalia, male, Sparse pubic hair, Abnormality of the uterus, In... ORPHA:754
Aromatase Deficiency
Enlarged polycystic ovaries, Ambiguous genitalia, female, Eunuchoid habitus, Female pseudohermaph... ORPHA:91
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
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... OMIM:612310
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Short stature, Reduced subcutaneous adipose tissue, Lipodystrophy, Hirsutis... OMIM:612526
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility, Abnormal hair mor... ORPHA:3000
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Hypocholesterolemia, Short stature OMIM:610883
Premature Ovarian Failure 20
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:619938
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Short stature, Premature ovarian insufficiency, Elevated circulating creatine kinase concentratio... OMIM:619518
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair, Hydrocele testis, Hypocholesterolemia, Neonatal death, Micropenis OMIM:618810
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Failure to thrive, Elevated circulating phytanic acid concentration, Steator... OMIM:266510
Ovarian Dysgenesis 3
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... OMIM:614324
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... OMIM:618433
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating renin level, Decreased circulating cort... ORPHA:90793
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Chylomicron Retention Disease
Steatorrhea, Failure to thrive, Growth delay, Hypocholesterolemia, Hypertriglyceridemia ORPHA:71
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Elevated circulating follicle stimul... OMIM:620103
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Small for gestational age, Premature ... ORPHA:1916
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Decreased body weight, Short stature, Elevated circulati... ORPHA:96180
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
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Failure to thrive, Conjugated hyperbilirubinemia, Steatorrhea OMIM:607765
Complete Androgen Insensitivity Syndrome
Female external genitalia in individual with 46,XY karyotype, Sparse axillary hair, Bilateral cry... ORPHA:99429
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:251510
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Abnormal subcutaneous fat tissue distribution, Premature ovarian insufficien... OMIM:212065
Spermatogenic Failure 28
Decreased testicular size, Male infertility, Elevated circulating luteinizing hormone level, Non-... OMIM:618086
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:616950
Spermatogenic Failure 2
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia OMIM:108420
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Alg12-Cdg
Hyponatremia, Camptodactyly, Intrauterine growth retardation, Failure to thrive, Hypospadias, Cry... ORPHA:79324
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter OMIM:617577
Late-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Failu... ORPHA:556037
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Abnormality of secondary sexual hair, Ambiguous genitalia, Aplasia of t... ORPHA:90797
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 66
Globozoospermia, Male infertility OMIM:619799
Mandibuloacral Dysplasia
Alopecia, Contractures of the large joints, Increased circulating free fatty acid level, Increase... ORPHA:2457
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Failu... ORPHA:556030
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating... OMIM:110100
Dubowitz Syndrome
Sparse scalp hair, Sparse lateral eyebrow, Short stature, Inguinal hernia, Hypospadias, Cryptorch... OMIM:223370
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Short stature, Hypoplastic labia majora, Failure to thrive, Hypocholesterolemia, ... OMIM:244450
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Male infertility, Hypocalcemic seizures, Congenital hypoparathyr... ORPHA:2239
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... ORPHA:79239
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Abetalipoproteinemia
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Steatorrhea, Abnormal circulating ap... ORPHA:14
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circulating gonadotro... ORPHA:1772
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Precocious puberty, Short stature, Bifid scrotum, Bicornuate uterus, Intraut... OMIM:270400
47,Xyy Syndrome
Macroorchidism, Azoospermia, Oligospermia, Increased circulating gonadotropin level, Male inferti... ORPHA:8
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
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
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Secondary amenorrhea, Premature ovarian insufficiency, Lacrimal gland aplasi... ORPHA:572333
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Weight loss, Hypogonadism, Abnormal testis morphology, Oligospermia, ... ORPHA:85450
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia, Nail dystrophy ORPHA:31150
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Gonadoblastoma, Short stature, Secondary amenorrhea, Premature ovarian insufficiency, L... ORPHA:99413
Turner Syndrome
Alopecia, Gonadoblastoma, Short stature, Secondary amenorrhea, Premature ovarian insufficiency, L... ORPHA:881
Mosaic Monosomy X
Alopecia, Gonadoblastoma, Short stature, Secondary amenorrhea, Premature ovarian insufficiency, L... ORPHA:99228
Monosomy X
Alopecia, Gonadoblastoma, Short stature, Secondary amenorrhea, Premature ovarian insufficiency, L... ORPHA:99226
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... ORPHA:90363
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Bloom Syndrome
Premature ovarian insufficiency, Small for gestational age, Azoospermia, Adipose tissue loss, Oli... ORPHA:125
Fanconi Anemia, Complementation Group A
Short stature, Small for gestational age, Male infertility, Hypergonadotropic hypogonadism, Crypt... OMIM:227650
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Weight loss, Short stature, Decreased plasma carnitine, Hypophosphat... OMIM:219800
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Noonan Syndrome 1
Hypogonadism, Short stature, Woolly hair, Hypospadias, Male infertility, Cryptorchidism, Low post... OMIM:163950
Cystic Fibrosis
Failure to thrive, Male infertility, Steatorrhea OMIM:219700
Desmosterolosis
Rhizomelia, Ambiguous genitalia, female, Joint contracture of the hand, Abnormal circulating chol... OMIM:602398
Desmosterolosis
Ambiguous genitalia, Failure to thrive, Severe short stature, Growth delay, Intrauterine growth r... ORPHA:35107

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 Dhcr24

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 Dhcr24.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Generation and validation of a conditional knockout mouse model for desmosterolosis. Journal of lipid research (January 2021) Dhcr24tm1a(EUCOMM)Wtsi PMC7933790
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Dhcr24tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dhcr24tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Dhcr24tm1a(EUCOMM)Wtsi PMC6459510

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dhcr24tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dhcr24tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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