Gabrg2 | gamma-aminobutyric acid type A receptor, subunit gamma 2

GeneMGI:95623Synonyms: GABAA-R, Gabrg-2, +1 more

Physiological systems

22 / 24 physiological systems tested

7 Significantly impacted by the knock-out

 Reproductive system Endocrine/exocrine gland Integument Vision/eye Skeleton Mortality/aging Cardiovascular system

15 No significant impact

2 Not tested

Gene metrics:10Significant phenotypes
7Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

preweaning lethality, complete penetrance3 supporting datasetsGabrg2em1(IMPC)MbphomozygoteEarly adultN/A * 
abnormal retina morphology1 supporting datasetGabrg2em1(IMPC)MbpheterozygoteEarly adult1.69x10-5 
persistence of hyaloid vascular system1 supporting datasetGabrg2em1(IMPC)MbpheterozygoteEarly adult2.08x10-9 
decreased heart weight2 supporting datasetsGabrg2em1(IMPC)MbpheterozygoteEarly adult8.97x10-8 
enlarged testis1 supporting datasetGabrg2em1(IMPC)MbpheterozygoteEarly adultN/A * 
abnormal ovary morphology1 supporting datasetGabrg2em1(IMPC)MbpheterozygoteEarly adultN/A * 
decreased bone mineral content1 supporting datasetGabrg2em1(IMPC)MbpheterozygoteEarly adult9.37x10-5 
abnormal testis morphology1 supporting datasetGabrg2em1(IMPC)MbpheterozygoteEarly adultN/A * 
abnormal skin morphology1 supporting datasetGabrg2em1(IMPC)MbpheterozygoteEarly adultN/A * 
decreased bone mineral density1 supporting datasetGabrg2em1(IMPC)MbpheterozygoteEarly adult1.87x10-5 
* 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

Human diseases caused by Gabrg2 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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Gabrg2em1(IMPC)MbpExon Deletionmouse
Gabrg2tm1a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Gabrg2tm1e(EUCOMM)HmguTargeted, non-conditional alleleES Cell
Gabrg2tm355(L1L2_gt2)KO first allele (reporter-tagged insertion with conditional potential)targeting vector
Gabrg2tm355(L1L2_st2)KO first allele (reporter-tagged insertion with conditional potential)targeting vector

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