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Keywords:

  • PAX3;
  • MITF;
  • SLUG;
  • Endothelin B-receptor;
  • EDN3. SOX10;
  • splotch;
  • microphthalmia;
  • Slugh−/−;
  • WS4;
  • Japanese fancy mouse 1;
  • Lethal-spotting;
  • Dominant megacolon

Waardenburg syndrome (WS) is an auditory-pigmentary syndrome caused by a deficiency of melanocytes and other neural crest-derived cells. Depending on a variety of symptoms associated with the auditory-pigmentary symptoms, WS is classified into four types: WS type 1 (WS1), WS2, WS3, and WS4. Six genes contributing to this syndrome –PAX3, SOX10, MITF, SLUG, EDN3 and EDNRB– have been cloned so far, all of them necessary for normal development of melanocytes. Mutant mice with coat color anomalies were helpful in identifying these genes, although the phenotypes of these mice did not necessarily perfectly match those of the four types of WS. Here we describe mice with mutations of murine homologs of WS genes and verify their suitability as models for WS with special interest in the cochlear disorder. The mice include splotch (Sp), microphthalmia (mi), Slugh−/−, WS4, JF1, lethal-spotting (ls), and Dominant megacolon (Dom). The influence of genetic background on the phenotypes of mice mutated in homologs of WS genes is also addressed. Finally, possible interactions among the six WS gene products are discussed.