This mutation, discovered by its visible phenotype among G1 progeny of an ENU-mutagenized male mouse, corresponds to a T-to-C transition at nucleotide position 363 of the gene, in the first of seven total exons. This substitution results in replacement of cysteine by arginine at amino acid position 100 (C100R), in the first linker domain of the keratin protein. (J:137499)

Basic Information

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