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Nat Genet. 1992 Sep;2(1):75-9.

Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1.

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1
MRC Institute of Hearing Research, University Park, Nottingham, UK.

Abstract

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.

PMID:
1303254
DOI:
10.1038/ng0992-75
[Indexed for MEDLINE]
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