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Gabrg2tm1Spet
Targeted Allele Detail
Summary
Symbol: Gabrg2tm1Spet
Name: gamma-aminobutyric acid type A receptor, subunit gamma 2; targeted mutation 1, Steven Petrou
MGI ID: MGI:3764923
Synonyms: Gabrg2R43Q, Gabrg2tmSpet, gamma2(R43Q)
Gene: Gabrg2  Location: Chr11:41801030-41891684 bp, - strand  Genetic Position: Chr11, 24.8 cM
Alliance: Gabrg2tm1Spet page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:127120
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsThe coding region was replaced with a coding region containing substitution that results in an amino acid substution of a glutamine for an arginine at position 43 (R43Q), 4 aditional silent mutations (not identified) and a floxed neo cassette that was subsequently removed by cre-mediated recombination. Expression levels were confirmed to be normal by RT-PCR analysis on total brain extracts. Reduction in protein product was confirmed by wesrtern blot analysis on extracts from E16 forebrains. This allele was generated from Gabrg2tm2Spet. (J:127120)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Gabrg2 Mutation:  41 strains or lines available
References
Original:  J:127120 Tan HO, et al., Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy. Proc Natl Acad Sci U S A. 2007 Oct 30;104(44):17536-41
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory