This mutation, whose phenotype was first observed among G3 progeny of an ENU-mutagenized male mouse, has been identified as a T to C transition at nucleotide 503 of this gene, in the third of its 9 exons. This substitution is predicted to result in replacement of leucine by proline at amino acid position 168 of the standard form of the protein, which corresponds to amino acid position 443 of the long protein isoform, in the second transmembrane helix. Expression has not been analyzed. (J:137501)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
3
--

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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