title: A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata.
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.
authors.affiliation: First Department of Biochemistry, Department of Otorhinolaryngology, Niigata University School of Medicine, Asahimachi 1-757, Niigata, 951-8510, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Wada
authors.forename: Y
authors.initials: Y
authors.lastname: Wakabayashi
authors.forename: S
authors.initials: S
authors.lastname: Takahashi
authors.forename: T
authors.initials: T
authors.lastname: Ushiki
authors.forename: Y
authors.initials: Y
authors.lastname: Kikkawa
authors.forename: H
authors.initials: H
authors.lastname: Yonekawa
authors.forename: R
authors.initials: R
authors.lastname: Kominami
mesh_terms: D000818:Animals; D001522:Behavior, Animal; D015820:Cadherins / Q000235:genetics* / Q000378:metabolism; D002874:Chromosome Mapping; D002923:Cilia / Q000378:metabolism / Q000473:pathology; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D004195:Disease Models, Animal; D020224:Expressed Sequence Tags; D005819:Genetic Markers; D006198:Hair Cells, Auditory / Q000378:metabolism / Q000473:pathology; D006720:Homozygote; D007178:Inbreeding; D051379:Mice; D008813:Mice, Inbred ICR; D008818:Mice, Neurologic Mutants / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D012333:RNA, Messenger / Q000378:metabolism; D011995:Recombination, Genetic
chemical_list: D015820:Cadherins; C499091:Cdh23 protein, mouse; D005819:Genetic Markers; D012333:RNA, Messenger