This mutation was identified by its behavioral phenotype among G3 progeny of an ENU mutagenized male mouse. It was mapped to Chr 15 and found to correspond to a G to T transversion at nucleotide position 2919 of the gene (Genbank: NM_001077499). This is predicted to result in replacement of tryptophan by leucine at amino acid position 935 (W935L), which resides in the pore loop between helices S5 and S6 of domain II. (J:139714)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Semidominant
1
11
--

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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