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Gene: Srd5a3 MGI:1930252

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Gene Summary

Name:
steroid 5 alpha-reductase 3
Synonyms:
1110025P14Rik,  D730040M03Rik,  Srd5a2l

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 Srd5a3tm1b(EUCOMM)Wtsi HOM E9.5 0.00
preweaning lethality, complete penetrance Srd5a3tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal embryo turning Srd5a3tm1b(EUCOMM)Wtsi HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Srd5a3tm1b(EUCOMM)Wtsi HOM   E12.5 0.00
embryonic growth retardation Srd5a3tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal tail bud morphology Srd5a3tm1b(EUCOMM)Wtsi HOM E9.5 0.00
abnormal auditory brainstem response Srd5a3tm1b(EUCOMM)Wtsi HET   Early adult 4.61×10-06

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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
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
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 50% (1 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 50% (1 of 2)
Footplate N/A heterozygote 50% (1 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 1)
Handplate N/A heterozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 50% (1 of 2)
Hindlimb N/A heterozygote 50% (1 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 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 50% (1 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

Adult LacZ

LacZ Images Section

37 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

View images

Human diseases caused by Srd5a3 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 Srd5a3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Kahrizi Syndrome
Short stature OMIM:612713
Srd5A3-Cdg
Optic atrophy, Hearing impairment ORPHA:324737
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Low-set ears OMIM:612379

The table below shows human diseases predicted to be associated to Srd5a3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart, Gastroschisis ORPHA:2476
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Acalvaria
Omphalocele, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Inguinal hernia, Spina bifida, Mitral valve prolapse OMIM:211960
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Craniorachischisis
Omphalocele, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Schisis Association
Encephalocele, Omphalocele, Anencephaly, Spina bifida ORPHA:63862
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Caudal Duplication
Omphalocele, Myelomeningocele, Spina bifida ORPHA:1756
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Meckel Syndrome, Type 2
Encephalocele, Omphalocele, Meningocele, Anencephaly OMIM:603194
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Anomalous pulmonary venous return, Abnormal aortic valve mor... ORPHA:1120
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida ORPHA:2345
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Triploidy
Omphalocele, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly ORPHA:3376
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Wildervanck Syndrome
Meningocele ORPHA:3456
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Humero-Radial Synostosis
Meningocele ORPHA:3265
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spina bifida o... ORPHA:2311
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Iniencephaly
Encephalocele, Omphalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dy... ORPHA:63259
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida ORPHA:1327
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect OMIM:614424
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Cerebrocostomandibular Syndrome
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly ORPHA:1393
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Lateral Meningocele Syndrome
Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Hydrocephalus, Meningocele, Um... OMIM:130720
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Lateral Meningocele Syndrome
Umbilical hernia, Inguinal hernia, Meningocele, Ventricular septal defect ORPHA:2789
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Endocardi... ORPHA:99776
Pagod Syndrome
Encephalocele, Omphalocele, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left h... ORPHA:991
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Trisomy 18
Omphalocele, Ventricular septal defect, Spina bifida, Anencephaly, Holoprosencephaly, Atrial sept... ORPHA:3380
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Lumbar Syndrome
Myelomeningocele, Bladder exstrophy, Spina bifida ORPHA:83628
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Ventricular septal defect, Spina bifida, Abnormal cardiac septum mo... ORPHA:2092
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Trisomy 20P
Umbilical hernia, Inguinal hernia, Spina bifida ORPHA:261318
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Cloacal Exstrophy
Omphalocele, Myelomeningocele, Bladder exstrophy, Spina bifida ORPHA:93929
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Inguinal hernia, Spina bifida ORPHA:3412
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
22Q11.2 Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Hy... ORPHA:567
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Occipital meningocele, Hydrocephalus, Anencephaly OMIM:616546
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Perimembranou... ORPHA:508498
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida OMIM:109400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Neu-Laxova Syndrome 2
Spina bifida OMIM:616038
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Stillbirth, Neonatal death, Small placenta, Short umbili... OMIM:256520
Jacobsen Syndrome
Inguinal hernia, Ventricular septal defect, Spina bifida, Hypoplastic left heart, Aortic valve st... ORPHA:2308
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... ORPHA:363958
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Nail-Patella Syndrome
Spina bifida OMIM:161200
Neu-Laxova Syndrome
Spina bifida ORPHA:2671
Fanconi Anemia
Spina bifida, Hydrocephalus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology... ORPHA:84
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Spina bifida, Atrial septal defect, Atrioventricular canal defect, Tet... OMIM:274000
Lathosterolosis
Meningocele ORPHA:46059
Holoprosencephaly 7
Omphalocele, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly,... OMIM:610828
Orofaciodigital Syndrome Vi
Occipital meningocele, Hypoplastic left heart OMIM:277170
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, Mitral valve prolapse, Perimembranous ventricular septal... OMIM:180849
Campomelic Dysplasia
Hydrocephalus, Abnormal heart morphology, Spina bifida, Spinal dysraphism OMIM:114290
Exstrophy-Epispadias Complex
Omphalocele, Inguinal hernia, Spina bifida, Hydrocephalus, Abnormal heart morphology, Bladder exs... ORPHA:322
Marfan Syndrome
Inguinal hernia, Meningocele, Mitral valve calcification, Mitral valve prolapse ORPHA:558
Aicardi Syndrome
Spina bifida, Hiatus hernia OMIM:304050
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Transposition of the great arte... OMIM:192350
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Spina bifida OMIM:619480
Phocomelia, Schinzel Type
Meningocele ORPHA:2879
Otopalatodigital Syndrome, Type Ii
Omphalocele, Spina bifida, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia OMIM:304120
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta OMIM:267750
Arima Syndrome
Occipital meningocele OMIM:243910
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820
Kahrizi Syndrome
Short stature OMIM:612713
Srd5A3-Cdg
Optic atrophy, Hearing impairment ORPHA:324737
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Low-set ears OMIM:612379

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 Srd5a3

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 Srd5a3.

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

Title Journal IMPC Allele PubMed ID
High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect. eLife (October 2018) Srd5a3tm1a(EUCOMM)Wtsi PMC6185108
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Srd5a3tm1b(EUCOMM)Wtsi PMC5503261

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MGI Allele Allele Type Produced
Srd5a3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Srd5a3tm43607(L1L2_st2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Srd5a3tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Srd5a3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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