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This mutation, discovered by its visible phenotype among the G1 progeny of an ENU mutagenized male mouse, comprises a T to A transversion at position 1123 of the gene (Genbank: NM_027983), in the sixth of its seven exons. This results in replacement of isoleucine by asparagine at amino acid position 353 of the keratin protein (I353N), in a region involved in protein-protein interactions. (J:145290)
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
