Gabrb3^tm2.1Uru
Targeted Allele Detail

Summary

• Symbol: Gabrb3^tm2.1Uru
• Name: GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3; targeted mutation 2.1, Uwe Rudolph
• MGI ID: MGI:5908395
• Synonyms: S408/9A
• Gene: Gabrb3 Location: Chr7:57240266-57478550 bp, + strand Genetic Position: Chr7, 33.53 cM
• Alliance: Gabrb3^tm2.1Uru page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:228332
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The codons for serines 408 and 409 in exon 9 were mutated to alanine and a loxP and FRT flanked neo cassette was inserted upstream of the 5' end of exon 9 via homologous recombination. Cre-mediated recombination removed the neo cassette. Cell surface expression of this subunit is increased to 145% of wild-type without modifying total subunit expression levels. (J:228332)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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 Gabrb3 Mutation: 33 strains or lines available

References

• Original: J:228332 Vien TN, et al., Compromising the phosphodependent regulation of the GABAAR beta3 subunit reproduces the core phenotypes of autism spectrum disorders. Proc Natl Acad Sci U S A. 2015 Dec 1;112(48):14805-10
• All: 3 reference(s)