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Gabrb1m2Qnma
Spontaneous Allele Detail
Summary
Symbol: Gabrb1m2Qnma
Name: gamma-aminobutyric acid (GABA) A receptor, subunit beta 1; mutation 2, Quentin M Anstee
MGI ID: MGI:5704359
Synonyms: Gabrb1P228H
Gene: Gabrb1  Location: Chr5:71815456-72306380 bp, + strand  Genetic Position: Chr5, 38.18 cM
Alliance: Gabrb1m2Qnma page
Mutation
origin
Strain of Origin:  BALB/cAnN
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structures
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:  21 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)

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
01/31/2023
MGI 6.22
The Jackson Laboratory