Mouse coat color mutations: from fancy mice to functional genomics

Dev Dyn. 2006 Sep;235(9):2401-11. doi: 10.1002/dvdy.20840.


Mouse coat color mutations have a long history in biomedical research. The viable and visible phenotype of most coat color mutations has made the pigment cell, the melanocyte, an ideal system for genetic, molecular, and cellular analysis. Molecular cloning and analysis of many of the different coat color mutations have revealed the roles of a diverse range of genes, and today we know more about the pathways and proteins that regulate the development and function of pigment cells than we know about most other cell types in mammalian organisms. Coat color mutations have also provided novel insights into stem cell biology and human diseases, including melanoma. In the future, it will be important to build on this history and knowledge by taking advantage of the extensive repertoire of recently developed genome-wide methodologies, available genomic information, and the powerful methods that have been developed for modifying the mouse genome to systematically dissect the development and function of this important cell type. The usefulness of coat color mutations has just begun to emerge.

Publication types

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

MeSH terms

  • Animals
  • Cell Differentiation
  • Genomics
  • Hair Color / genetics
  • Melanocytes / cytology
  • Melanocytes / metabolism
  • Melanosomes / metabolism
  • Melanosomes / ultrastructure
  • Mice
  • Mutation
  • Pigments, Biological / genetics
  • Pigments, Biological / metabolism
  • Skin Pigmentation / genetics*
  • Stem Cells / cytology
  • Stem Cells / metabolism


  • Pigments, Biological