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Gabrg2tm1.2Rmac
Targeted Allele Detail
Nomenclature
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
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:306976
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6J
Mutation
description
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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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
References
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
05/10/2022
MGI 6.19
The Jackson Laboratory