The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene.
Animal, Base-Sequence, Cadherins, Cloning-Molecular, Cochlea, DNA-Mutational-Analysis, Deafness, Genotype, Mice, Mice-Mutant-Strains, Molecular-Sequence-Data, Mutation, Phenotype, Protein-Precursors, RNA-Messenger, Reverse-Transcriptase-Polymerase-Chain-Reaction, Sequence-Deletion, SUPPORT-U-S-GOVT-P-H-S
Nat Genet 2001 Jan; 27(1):99-102.
The neuroepithelia of the inner ear contain hair cells that function as mechanoreceptors to transduce sound and motion signals. Mutations affecting these neuroepithelia cause deafness and vestibular dysfuction in humans. Ames waltzer (av) is a recessive mutation found in mice that causes deafness and a balance disorder associated with the degeneration of inner ear neuroepithelia. Here we report that the gene that harbours the av mutation encodes a novel protocadherin. Cochlear hair cells in the av mutants show abnormal stereocilia by 10 days after birth (P10). This is the first evidence for the requirement of a protocadherin for normal function of the mammalian inner ear.
Alagramam, K N.; Murcia, C L.; Kwon, H Y.; Pawlowski, K S.; Wright, C G.; and Woychik, R P., " The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene." (2001). Faculty Research 2000 - 2009. 335.