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

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

Authors

  • Wada T
  • Wakabayashi Y
  • Takahashi S
  • Ushiki T
  • Kikkawa Y
  • Yonekawa H
  • Kominami R

Journal

Biochemical and biophysical research communications

Publication Data

April 27, 2001

Associated Grants

None

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