This mutation was discovered by its visible phenotype in progeny of a mutagenized male mouse. Sequence analysis of all the genes in the keratin gene cluster revealed an A to T transversion at nucleotide position 547 of the keratin 10 gene, in the first of the gene's eight exons, that results in replacement of a highly conserved glutamic acid by valine at amino acid position 172 of the keratin protein (E172V), in the first linker domain. (J:147340)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Dominant
1
8
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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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