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PMID:11386759
| Citation |
Wilson, SM, Householder, DB, Coppola, V, Tessarollo, L, Fritzsch, B, Lee, EC, Goss, D, Carlson, GA, Copeland, NG and Jenkins, NA (2001) Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice. Genomics 74:228-33 |
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| Abstract |
Mutations at the waltzer (v) locus result in deafness and vestibular dysfunction due to degeneration of the neuroepithelium within the inner ear. Here, we use a positional cloning approach to show that waltzer encodes a novel cadherin (Cdh23), which is most closely related to the Drosophila Fat protein. A single nucleotide deletion in the v(J) allele and a single nucleotide insertion in the v allele are predicted to truncate each protein near the N-terminus and produce a functional null allele. In situ hybridization analysis showed that Cdh23 is expressed in the sensory hair cells of the inner ear, where it has been suggested to be a molecule critical for crosslinking of the stereocilia. In addition, Cdh23 is expressed in the urticulo-saccular foramen,the ductus reuniens, and Reissner's membrane, suggesting that Cdh23 may also be involved in maintaining the ionic composition of the endolymph. Finally, mutations in human CDH23 have recently been described for two loci, DFNB12 and USH1D, which cause nonsyndromic deafness, identifying waltzer as a mouse model for human hearing loss. |
| Links |
PubMed Online version:10.1006/geno.2001.6554 |
| Keywords |
Alleles; Amino Acid Sequence; Animals; Cadherins/biosynthesis; Cadherins/genetics; Chromosome Mapping; Chromosomes, Artificial, Bacterial; Chromosomes, Artificial, Yeast; Cloning, Molecular; Crosses, Genetic; DNA, Complementary/metabolism; Deafness/genetics; Deafness/metabolism; Drosophila; Gene Library; Humans; In Situ Hybridization; Membrane Proteins/genetics; Mice; Mice, Mutant Strains; Models, Genetic; Molecular Sequence Data; Mutation; Physical Chromosome Mapping; Point Mutation; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Protein Structure, Tertiary; Reverse Transcriptase Polymerase Chain Reaction; Tissue Distribution |
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Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
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