International Mammalian Genome Society

logo18th International Mouse Genome Conference

17-22 October 2004, Seattle, USA


POSTER 171 - REDUCED STARTLE RESPONSE AND TREMOR IN THE NEW MOUSE MUTANT CLOTH-EARS

Mackenzie FE 1, Parkinson NJ 2, Brooker D 1, Polley S 1, Glenister P 1, Fray M 1,Brown S D M 1

1 MRC Mammalian Genetics Unit, Harwell, United Kingdom, 2 MRC Prion Unit, London, United Kingdom

Hearing loss is the most common sensory defect in humans and affects one in two thousand children from birth.  A further one in two thousand will be affected by deafness before adulthood. Approximately fifty percent of all deafness cases are thought to have a genetic cause. In humans over seventy non-syndromic deafness loci have been mapped, but the majority remain to be cloned. The UK ENU (N-ethyl-N-nitrosourea) mouse mutagenesis programme has generated numerous deaf mouse mutants, of which the underlying genes for several have been identified by positional cloning. Hearing loss in these mutants is defined by a reduced or absent Preyer reflex (ear flick) and startle response on exposure to a 90dB SPL, 20kHz single tone burst generated by a clickbox. The Cloth-ears mouse mutant displays autosomal dominant reduced startle response from 1 month and autosomal semi-dominant tremor. High resolution genetic mapping places the Cloth-ears mutation within a 2.1Mb region on distal chromosome 15. We present genotypic and phenotypic data for this novel mutant line, and show that the Cloth-ears mouse is a useful model for dissecting the genetic pathways involved in sensory loss and neurological defects.

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