| First Author | Wada T | Year | 2001 |
| Journal | Biochem Biophys Res Commun | Volume | 283 |
| Issue | 1 | Pages | 113-7 |
| PubMed ID | 11322776 | Mgi Jnum | J:69028 |
| Mgi Id | MGI:1933915 | Doi | 10.1006/bbrc.2001.4724 |
| Citation | Wada T, et al. (2001) A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata. Biochem Biophys Res Commun 283(1):113-7 |
| abstractText | 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. Copyright 2001 Academic Press. |
