Normal Hearing in Splotch (Sp/+), the Mouse Homologue of Waardenburg Syndrome Type 1

Nat Genet. 1992 Sep;2(1):75-9. doi: 10.1038/ng0992-75.


Splotch is considered a model of Waardenburg syndrome type I (WSI) because the abnormalities are caused by mutations in homologous genes, Pax-3 in mice and PAX3 (HuP2) in humans. We examined inner ear structure and function in Splotch mutants (Sp/+) and found no sign of auditory defects, in contrast to the deafness in many WSI individuals. The difference in expression of the genes in the two species may be due to different parts of the gene being mutated, or may result from variations in modifying influences as yet undefined.

Publication types

  • Comparative Study

MeSH terms

  • Animals
  • Chromosome Mapping
  • Disease Models, Animal
  • Ear, Inner / abnormalities
  • Female
  • Gene Expression
  • Hearing / genetics*
  • Hearing / physiology
  • Heterozygote
  • Humans
  • Male
  • Mice
  • Phenotype
  • Pigmentation Disorders / genetics
  • Species Specificity
  • Waardenburg Syndrome / genetics*
  • Waardenburg Syndrome / physiopathology