A high-resolution genetic map around waltzer on mouse chromosome 10 and identification of a new allele of waltzer. The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse. A gene for uncomplicated deafness in the mouse. Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21–22.
Mouse Genome Informatics Project (The Jackson Laboratory, Bar Harbor, Maine, 2000).Ĭhaib, H. Mutations in human CDH23 cause Usher syndrome type 1D and thus, establish waltzer as the mouse model for USH1D. Our data indicate that otocadherin is a critical component of hair bundle formation. We demonstrate Cdh23 expression in the neurosensory epithelium and show that during early hair-cell differentiation, stereocilia organization is disrupted in v 2J homozygotes. All three alleles are predicted to cause loss of function. In v 2J, a GA transition abolishes the donor splice site, leading to aberrant splice forms. In v Alb, a CT exchange generates an ectopic donor splice site, effecting deletion of 119 nucleotides of exonic sequence. In v 6J, a GT transversion creates a premature stop codon. It has an extracellular domain that contains 27 repeats these show significant homology to the cadherin ectodomain. The 10.5-kb Cdh23 cDNA encodes a very large, single-pass transmembrane protein, that we have called otocadherin.
Here we report the identification of a new gene mutated in v. Numerous mutations at the waltzer locus have been documented causing erratic circling and hearing loss 4, 5, 6, 7. The human region that is orthologous to the mouse 'waltzer' region is located at 10q21–q22 and contains the human deafness loci DFNB12 and USH1D (refs. Mouse chromosome 10 harbors several loci associated with hearing loss, including waltzer ( v), modifier-of deaf waddler ( mdfw) and Age-related hearing loss 1 ( Ahl).
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