Gabrg2^tm1.2Rmac
Targeted Allele Detail

Summary

• Symbol: Gabrg2^tm1.2Rmac
• Name: gamma-aminobutyric acid type A receptor, subunit gamma 2; targeted mutation 1.2, Robert L Macdonald
• MGI ID: MGI:6718838
• Synonyms: Gabrg2^K328M
• Gene: Gabrg2 Location: Chr11:41801030-41891684 bp, - strand Genetic Position: Chr11, 24.8 cM
• Alliance: Gabrg2^tm1.2Rmac page

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 details: A 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)

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: 41 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)