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Targeted Allele Detail
Symbol: Gabrg2tm1.2Rmac
Name: gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2; targeted mutation 1.2, Robert L Macdonald
MGI ID: MGI:6718838
Synonyms: Gabrg2K328M
Gene: Gabrg2  Location: Chr11:41801030-41891684 bp, - strand  Genetic Position: Chr11, 24.8 cM
Germline Transmission:  Earliest citation of germline transmission: J:306976
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6J
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsA construct containing a loxP site, exon 8, a lox2272 site, FRT-flanked neomycin resistance gene cassette (PGK-neo), an inverted exon 8 containing an A to T mutation at position 983 which results in a lysine to methionine substitution at amino acid 328, a loxP site and lox2272 site replaced exon 8. Flp-mediated recombination removed the PGK-Neo. Cre-mediated recombination removed the wild-type floxed exon 8 and flipped the mutant exon in the correct orientation so it is expressed. (J:306976)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Gabrg2 Mutation:  27 strains or lines available
Original:  J:306976 Qu S, et al., The K328M substitution in the human GABAA receptor gamma2 subunit causes GEFS+ and premature sudden death in knock-in mice. Neurobiol Dis. 2021 May;152:105296
All:  1 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
MGI 6.19
The Jackson Laboratory