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Gabra1tm1.1Mjga
Targeted Allele Detail
Summary
Symbol: Gabra1tm1.1Mjga
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: Gabra1tm1.1Mjga 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 detailsA 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)
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 Gabra1 Mutation:  47 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)

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
04/09/2024
MGI 6.23
The Jackson Laboratory