This mutation, discovered because of its visible phenotype in two male G3 progeny of an ENU mutagenized male mouse, has been identified as a T-to-A transversion at nucleotide position 1307 of the gene (Genbank Accession NM_054039), in the twelfth of the gene's 13 exons. It is predicted to result in replacement of isoleucine by asparagine at amino acid position 350 of the protein (p.I350N); the protein's expression in mutant mice has not been analyzed. (J:141212)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
4
--

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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