Journal article
Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1
Nature genetics, Vol.2(1), pp.75-79
09/1992
DOI: 10.1038/ng0992-75
PMID: 1303254
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.
Details
- Title: Subtitle
- Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1
- Creators
- Karen P SteelRichard J.H Smith
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.2(1), pp.75-79
- DOI
- 10.1038/ng0992-75
- PMID
- 1303254
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 09/1992
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006300902771
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