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PMID:11322776
| Citation |
Wada, T, Wakabayashi, Y, Takahashi, S, Ushiki, T, Kikkawa, Y, Yonekawa, H and Kominami, R (2001) A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata. Biochem. Biophys. Res. Commun. 283:113-7 |
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| Abstract |
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. |
| Links |
PubMed Online version:10.1006/bbrc.2001.4724 |
| Keywords |
Animals; Behavior, Animal; Cadherins/genetics; Cadherins/metabolism; Chromosome Mapping; Cilia/metabolism; Cilia/pathology; DNA Mutational Analysis; Deafness/genetics; Disease Models, Animal; Expressed Sequence Tags; Genetic Markers; Hair Cells, Auditory/metabolism; Hair Cells, Auditory/pathology; Homozygote; Inbreeding; Mice; Mice, Inbred ICR; Mice, Neurologic Mutants/genetics; Phenotype; Point Mutation; RNA, Messenger/metabolism; Recombination, Genetic |
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