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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 möglich sobald Postprint bei der ZB eingereicht worden ist.
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
ISSN (print) / ISBN 0022-202X
e-ISSN 1523-1747
Zeitschrift Journal of Investigative Dermatology, The
Quellenangaben Band: 127, Heft: 1, Seiten: 60-64 Artikelnummer: , Supplement: ,
Verlag Elsevier
Verlagsort New York, NY
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Experimental Genetics (IEG)