Nature Genetics
2, 75 - 79 (1992)
doi:10.1038/ng0992-75
Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1Karen P. Steel1
& Richard J.H. Smith1, 2
1MRC Institute of Hearing Research, University Park, Nottingham NG7 2RD, UK
2Present address: Department of Otolaryngology, University of Iowa, Iowa City, Iowa 52242, USA 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.
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