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A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata.

http://www.ncbi.nlm.nih.gov/pubmed/11322776

A novel mouse model for human nonsyndromic hearing loss, Waltzer niigata (v(ngt)), is found and subjected to positional cloning analysis. Genome-wide scan of 1648 backcross mice maps v(ngt) to the D10Mit258 locus near Waltzer (v). Recombination breakpoints are positioned on a physical map consisting of 13 BACs relative to the flanking markers in the vicinity of v(ngt). Allelism test done in parallel shows that v(ngt) and v are allelic. Sequence analysis reveals one-base deletion in the cDNA encoding a cadherin-related protein, Cdh23, mutation of which is recently reported in v mutants. The frame-shift change, producing a truncated protein of 51 amino acids, is ascribed to a base-substitution of G to A in the acceptor site of splicing junction which is predicted to cause one-base shift of the splicing position.

Pubmed ID: 11322776 RIS Download

Mesh terms: Animals | Behavior, Animal | Cadherins | Chromosome Mapping | Cilia | DNA Mutational Analysis | Deafness | Disease Models, Animal | Expressed Sequence Tags | Genetic Markers | Hair Cells, Auditory | Homozygote | Inbreeding | Mice | Mice, Inbred ICR | Mice, Neurologic Mutants | Phenotype | Point Mutation | RNA, Messenger | Recombination, Genetic

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