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)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count