Gabrb1^m2Qnma
Spontaneous Allele Detail

Summary

• Symbol: Gabrb1^m2Qnma
• Name: gamma-aminobutyric acid type A receptor subunit beta 1; mutation 2, Quentin M Anstee
• MGI ID: MGI:5704359
• Synonyms: Gabrb1^P228H
• Gene: Gabrb1 Location: Chr5:71815456-72306380 bp, + strand Genetic Position: Chr5, 38.18 cM
• Alliance: Gabrb1^m2Qnma page

Mutation origin

• Strain of Origin: BALB/cAnN

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A spontaneous C-to-A mutation results in the amino acid substitution of proline with histidine at position 253 (p.P253H or p.P228H on mature peptide). (J:223500)
• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

2 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 Gabrb1 Mutation: 28 strains or lines available

References

• Original: J:223500 Anstee QM, et al., Mutations in the Gabrb1 gene promote alcohol consumption through increased tonic inhibition. Nat Commun. 2013;4:2816
• All: 1 reference(s)