T. Wada et al., A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer Mouse Niigata, BIOC BIOP R, 283(1), 2001, pp. 113-117
Citations number
19
Categorie Soggetti
Biochemistry & Biophysics
Journal title
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
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). All
elism test done in parallel shows that v(ngt) and v are allelic. Sequence a
nalysis reveals one-base deletion in the cDNA encoding a cadherin-related p
rotein, Cdh23, mutation of which is recently reported in v mutants. The fra
me-shift change, producing a truncated protein of 51 amino acids, is ascrib
ed to a base-substitution of G to A in the acceptor site of splicing juncti
on which is predicted to cause one-base shift of the splicing position. (C)
2001 Academic Press.