Gabrb1<m2Qnma> Spontaneous Allele Detail MGI Mouse (MGI:5704359)

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

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

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)

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