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J Invest Dermatol. 2006 May;126(5):1013-6.

A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis.

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  • 1Departments of Genetics, Stanford University School of Medicine, Beckman Center B281, Stanford, CA 94305-5323, USA. kelly.mcgowan@yahoo.com

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.

PMID:
16528356
[PubMed - indexed for MEDLINE]
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