| First Author | McGowan KA | Year | 2006 |
| Journal | J Invest Dermatol | Volume | 126 |
| Issue | 5 | Pages | 1013-6 |
| PubMed ID | 16528356 | Mgi Jnum | J:108758 |
| Mgi Id | MGI:3624721 | Doi | 10.1038/sj.jid.5700241 |
| Citation | McGowan KA, et al. (2006) A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis. J Invest Dermatol 126(5):1013-6 |
| abstractText | 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. |
