Molecular genetic characterization of the deaf Snell`s waltzer mouse
- Mammalian Genetics Lab., Frederick, MD (United States); and others
Many mutations in the mouse affect hearing. Their study may provide insight into the molecular mechanisms underlying sensorineural hearing impairment in humans. One such mutation is Snell`s waltzer (sv), which exhibits deafness and circling behavior. The abnormalities of the inner ear consist of post-natal degeneration of the entire neuroepithelium. The sv locus maps 2 cM distal to the dilute and short ear loci on chromosome 9. A number of radiation-induced mutations have previously been isolated that affect one or more genes in this region. One of these mutations, se{sup sv}, products a viable, short eared, Snell`s waltzer phenotype when homozygous. Molecular probes from the short ear region detect altered restriction fragments in DNA from mice carrying the se{sup sv} mutation. We have cloned the altered restriction fragments, sequenced the changes, and shown that the mutation consists of a chromosome inversion, with one end near the short ear gene and the other end in or near the sv gene. Attempts are currently underway to identify the sv gene by methods such as exon trapping and cDNA screening. The cloning of this gene is a prerequisite for a complete analysis of the abnormalities of sv/sv mice, and will aid in understanding the normal process of inner ear growth and morphogenesis.
- OSTI ID:
- 134157
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; CNN: Contract NO1-CO-74101; TRN: 95:005313-0893
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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