Srd5a3 | steroid 5 alpha-reductase 3

GeneMGI:1930252Synonyms: 1110025P14Rik, D730040M03Rik, +1 more

Physiological systems

19 / 24 physiological systems tested

5 Significantly impacted by the knock-out

 Embryo Growth/size/body region Limbs/digits/tail Hearing/vestibular/ear Mortality/aging

14 No significant impact

5 Not tested

Gene metrics:7Significant phenotypes
3Associated diseases
Expression examined in:48Adult tissues
25Embryo tissues

Phenotypes

abnormal tail bud morphology1 supporting datasetSrd5a3tm1b(EUCOMM)WtsihomozygoteE9.5N/A * 
preweaning lethality, complete penetrance1 supporting datasetSrd5a3tm1b(EUCOMM)WtsihomozygoteEarly adultN/A * 
abnormal embryo size1 supporting datasetSrd5a3tm1b(EUCOMM)WtsihomozygoteE9.5N/A * 
abnormal auditory brainstem response1 supporting datasetSrd5a3tm1b(EUCOMM)WtsiheterozygoteEarly adult4.61x10-6 
abnormal embryo turning1 supporting datasetSrd5a3tm1b(EUCOMM)WtsihomozygoteE9.5N/A * 
embryonic growth retardation1 supporting datasetSrd5a3tm1b(EUCOMM)WtsihomozygoteE9.5N/A * 
embryonic lethality prior to tooth bud stage1 supporting datasetSrd5a3tm1b(EUCOMM)WtsihomozygoteE12.5N/A * 
* Does not have a P-value assigned because it was manually marked as significant.
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* This parameter was manually assessed for significance.
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lacZ Expression

adrenal glandheterozygoteSection images
100% (2/2)0.7% (4/570)
aortaheterozygoteSection images
100% (2/2)0.19% (1/533)
brainheterozygoteSection images
100% (2/2)0.86% (5/579)
brainstemheterozygoteSection images
100% (2/2)0.41% (2/490)
brown adipose tissueheterozygoten/a0% (0/2)0% (0/588)
cartilage tissueheterozygoteSection images
100% (2/2)0.22% (1/454)
cerebellumheterozygoteSection images
100% (2/2)0.56% (3/532)
cerebral cortexheterozygoteSection images
100% (2/2)0.41% (2/491)
epididymisheterozygoteSection images
100% (1/1)87.5% (21/24)
esophagusheterozygoteSection images
100% (2/2)1.67% (7/419)
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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.






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Histopathology

IMPC related publications

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Srd5a3tm1a(EUCOMM)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Srd5a3tm1b(EUCOMM)WtsiReporter-tagged deletion allele (with selection cassette)mouse
Srd5a3tm1e(EUCOMM)WtsiTargeted, non-conditional alleleES Cell
Srd5a3tm43607(L1L2_st2)KO first allele (reporter-tagged insertion with conditional potential)targeting vector

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