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

Biochem Biophys Res Commun. 2001 Apr 27;283(1):113-7. doi: 10.1006/bbrc.2001.4724.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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

Substances

  • Cadherins
  • Cdh23 protein, mouse
  • Genetic Markers
  • RNA, Messenger