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- Title
A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis.
- Authors
McGowan, Kelly A; Aradhya, Swaroop; Fuchs, Helmut; de Angelis, Martin H; Barsh, Gregory S
- Abstract
Chemical mutagenesis in the mouse has increased the utility of phenotype-driven genetics as a means for studying different organ systems, developmental pathways, and pathologic processes. From a large-scale screen for dominant phenotypes in mice, a novel class of pigmentation mutants was identified by dark skin (Dsk). We describe a Dsk mutant, Dsk12, which models the human disease, epidermolytic hyperkeratosis (EHK). At 2 days of age, mutant animals exhibit intraepidermal blisters and erosions at sites of trauma, and by 2 weeks of age develop significant hyperkeratosis. We identified a missense mutation in mutant animals that predicts an S194P amino acid substitution in the 1A domain of Keratin 1, a known target for human mutations that cause EHK. Dsk12 recapitulates the gross pathologic, histologic, and genetic aspects of the human disorder, EHK.
- Publication
The Journal of investigative dermatology, 2006, Vol 126, Issue 5, p1013
- ISSN
0022-202X
- Publication type
Journal Article
- DOI
10.1038/sj.jid.5700241