| First Author | McGowan KA | Year | 2007 |
| Journal | J Invest Dermatol | Volume | 127 |
| Issue | 1 | Pages | 60-4 |
| PubMed ID | 16858417 | Mgi Jnum | J:116740 |
| Mgi Id | MGI:3694974 | Doi | 10.1038/sj.jid.5700498 |
| Citation | McGowan KA, et al. (2007) Identification of a Keratin 4 mutation in a chemically induced mouse mutant that models white sponge nevus. J Invest Dermatol 127(1):60-4 |
| abstractText | 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. |
