Ubash3a | ubiquitin associated and SH3 domain containing, A

GeneMGI:1926074Synonyms: 5830413C03Rik, Sts-2, +1 more

Physiological systems

20 / 24 physiological systems tested

4 Significantly impacted by the knock-out

 Homeostasis/metabolism Vision/eye Behavior/neurological Cardiovascular system

16 No significant impact

4 Not tested

Gene metrics:5Significant phenotypes
0Associated diseases
Expression examined in:70Adult tissues
0Embryo tissues

Phenotypes

decreased circulating triglyceride level1 supporting datasetUbash3atm1b(KOMP)WtsihomozygoteEarly adult2.53x10-5 
cataract1 supporting datasetUbash3atm1b(KOMP)WtsihomozygoteEarly adult8.58x10-5 
abnormal retina blood vessel morphology1 supporting datasetUbash3atm1b(KOMP)WtsihomozygoteEarly adult7.7x10-6 
abnormal lens morphology1 supporting datasetUbash3atm1b(KOMP)WtsihomozygoteEarly adult3.21x10-6 
decreased grip strength2 supporting datasetsUbash3atm1a(KOMP)WtsihomozygoteEarly adult7.79x10-6 
* 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 glandheterozygoten/a0% (0/2)0.7% (4/570)
aortaheterozygoten/a0% (0/2)0.19% (1/533)
bloodheterozygoten/a0% (0/2)0% (0/17)
boneheterozygoten/a0% (0/2)0% (0/394)
bone marrowheterozygoten/a0% (0/2)0% (0/22)
brainheterozygoten/a0% (0/2)0.86% (5/579)
brainstemheterozygoten/a0% (0/2)0.41% (2/490)
brown adipose tissueheterozygoteWholemount images
50% (1/2)0% (0/588)
cartilage tissueheterozygoten/a0% (0/2)0.22% (1/454)
cecumheterozygoten/a0% (0/2)7.75% (22/284)
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Human diseases caused by Ubash3a 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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Ubash3atm1a(KOMP)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Ubash3atm1b(KOMP)WtsiReporter-tagged deletion allele (with selection cassette)mouse
Ubash3atm1e(KOMP)WtsiTargeted, non-conditional alleleES Cell

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