Gabra1^tm1.1Mjga
Targeted Allele Detail

Summary

• Symbol: Gabra1^tm1.1Mjga
• Name: gamma-aminobutyric acid type A receptor subunit alpha 1; targeted mutation 1.1, Martin J Gallagher
• MGI ID: MGI:5705517
• Synonyms: alpha1 AD
• Gene: Gabra1 Location: Chr11:42021766-42073757 bp, - strand Genetic Position: Chr11, 24.97 cM
• Alliance: Gabra1^tm1.1Mjga page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:227437
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Dominant negative)
• Mutation: Nucleotide substitutions
• Mutation details: A missense mutation was generated in exon 9 by mutating the GCC codon with GAC to encode A322D followed with neomycin cassette in intron 9. Cre-mediated recombination removed the neomycin cassette. Western blot analysis at P15 shows that homozygotes express 6 +/- 3% of the amount of protein as in wild-type mice. (J:227437)

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 Gabra1 Mutation: 48 strains or lines available

References

• Original: J:227437 Arain F, et al., The developmental evolution of the seizure phenotype and cortical inhibition in mouse models of juvenile myoclonic epilepsy. Neurobiol Dis. 2015 Oct;82:164-75
• All: 1 reference(s)