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

J Invest Dermatol. 2007 Jan;127(1):60-4. doi: 10.1038/sj.jid.5700498. Epub 2006 Jul 20.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Disease Models, Animal*
  • Hair Color / genetics
  • Hamartoma / genetics*
  • Keratin-4 / genetics*
  • Leukoplakia, Oral / genetics*
  • Mice
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Mouth Diseases / genetics*
  • Mouth Mucosa / pathology
  • Mutation, Missense*


  • Keratin-4