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McGowan, K.A.* ; Fuchs, H. ; Hrabě de Angelis, M. ; Barsh, G.S.*

Identification of a Keratin 4 mutation in a chemically induced mouse mutant that models white sponge nevus.

J. Invest. Dermatol. 127, 60-64 (2006)
DOI
Open Access Green as soon as Postprint is submitted to ZB.
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
Corresponding Author
ISSN (print) / ISBN 0022-202X
e-ISSN 1523-1747
Quellenangaben Volume: 127, Issue: 1, Pages: 60-64 Article Number: , Supplement: ,
Publisher Elsevier
Publishing Place New York, NY
Non-patent literature Publications
Reviewing status Peer reviewed