Gabrg2^tm1.1Jqk
Targeted Allele Detail

Summary

• Symbol: Gabrg2^tm1.1Jqk
• Name: gamma-aminobutyric acid type A receptor, subunit gamma 2; targeted mutation 1.1, Jing-Qiong Kang
• MGI ID: MGI:5818723
• Synonyms: Gabrg2^Q390X
• Gene: Gabrg2 Location: Chr11:41801030-41891684 bp, - strand Genetic Position: Chr11, 24.8 cM
• Alliance: Gabrg2^tm1.1Jqk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:224480
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: (C57BL/6J x 129)F1

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A loxP site flanked neomycin resistance gene cassette was inserted into intron 8 and exon 9 was replaced with a version with an engineered C1165T point mutation. The point mutation gives rise to the mouse equivalent of the Dravet syndrome-associated human Q390X nonsense mutation (Q389X in mouse) in the encoded peptide. The neo cassette was removed through cre-mediated recombination. (J:224480)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Gabrg2 Mutation: 40 strains or lines available

References

• Original: J:224480 Kang JQ, et al., The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration. Nat Neurosci. 2015 Jul;18(7):988-96
• All: 7 reference(s)