Gabrb1<m1Qnma> Chemically induced Allele Detail MGI Mouse (MGI:5704358)

Gabrb1^m1Qnma
Chemically induced Allele Detail

Summary

Symbol:	Gabrb1^m1Qnma
Name:	gamma-aminobutyric acid type A receptor subunit beta 1; mutation 1, Quentin M Anstee
MGI ID:	MGI:5704358
Synonyms:	Gabrb1^L285R
Gene:	Gabrb1 Location: Chr5:71815456-72306380 bp, + strand Genetic Position: Chr5, 38.18 cM
Alliance:	Gabrb1^m1Qnma page

Mutation
origin

Strain of Origin:

BALB/cAnN

Mutation
description

Allele Type:		Chemically induced (ENU)
Mutation:		Single point mutation
		Mutation details: ENU mutagenesis induced a T to G point mutation in exon 8 that results in the amino acid substitution of leucine with arginine at position 310 (p.L310R or p.L285R 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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