International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)


A Taylor
MRC Institute of Hearing Research

Taylor A, Bussoli TJ, Cheong MA, Kelly A, Steel KP
MRC Institute of Hearing Research

bronx waltzer is an autosomal recessive mouse mutation causing abnormalities in the inner ear which result in mutant mice having deficiencies in both the auditory and vestibular systems. Previous studies have demonstrated that the hearing loss is due to degeneration of the inner hair cells in the organ of Corti, and that the vestibular phenotype is a result of sensory hair cell degeneration in the maculae and cristae. This phenotype is visible from E17.5, shortly after the hair cells differentiate, making bronx waltzer an interesting model for the understanding of the molecular basis of development and function of the inner ear as well as for hereditary deafness.The mutation is being mapped using a positional cloning approach and has been previously localised to a 1.86cM region of mouse chromosome 5 between the flanking markers D5Mit25 and D5Mit209. We are currently utilising publicly available sequence data to identify new polymorphic markers in order to reduce the size of the critical region. Two of these new markers reduce the region to a 1.49cM interval, covering 2.2Mb of sequence and containing approximately 50 genes based on the current Mouse Genome Assembly v 3 available at Ensembl. Expression studies are being carried out on these candidate genes and efforts to identify new flanking markers continue.

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