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This phenotypic mutant was identified in an ENU mutagenesis screen. The molecular lesion is a T to C substitution in exon 5 of the gene (position 11:80,817,609 (GRCm38/mm10) Assembly). This mutation leads to the substitution of the nonpolar aliphatic amino acid, isoleucine, by the polar amino acid threonine (p.I135T) in the encoded protein. (J:277123)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
