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Open Access Green as soon as Postprint is submitted to ZB.
Identification of a Keratin 4 mutation in a chemically induced mouse mutant that models white sponge nevus.
J. Invest. Dermatol. 127, 60-64 (2006)
With the goal of increasing the number of genetic entry points for studying physiologic processes and human disease, large-scale, systematic, chemical mutagenesis projects in mice have been initiated in several different centers. We have been studying mouse mutants that exhibit dominantly inherited defects in either skin and/or hair color. Here, we describe a bright coat color mutant, Bright coat color 1 (Bcc1), which develops light-colored hair at 4 weeks of age, and when homozygous exhibits oral leukoplakia and blistering, and growth retardation. We identified a missense mutation in mutant animals that predicts an N154S amino-acid substitution in the 1A domain of Keratin 4 (encoded by the Krt2-4 gene), a region known to be mutated in human patients with white sponge nevus (WSN). Bcc1 recapitulates the gross pathologic, histologic, and genetic aspects of the human disorder, WSN. © 2006 The Society for Investigative Dermatology.
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Publication type
Article: Journal article
Document type
Scientific Article
ISSN (print) / ISBN
0022-202X
e-ISSN
1523-1747
Quellenangaben
Volume: 127,
Issue: 1,
Pages: 60-64
Publisher
Elsevier
Publishing Place
New York, NY
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Experimental Genetics (IEG)