Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder

@article{Makishima2005TargetedDO,
  title={Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder},
  author={Tomoko Makishima and Clara I. Rodr{\'i}guez and Nahid G. Robertson and Cynthia C Morton and Colin Lawson Stewart and Andrew J. Griffith},
  journal={Human Genetics},
  year={2005},
  volume={118},
  pages={29-34}
}
Dominant progressive hearing loss and vestibular dysfunction DFNA9 is caused by mutations of the human COCH gene. COCH encodes cochlin, a highly abundant secreted protein of unknown function in the inner ear. Cochlin has an N-terminal LCCL domain followed by two vWA domains, and all known DFNA9 mutations are either missense substitutions or an amino acid deletion in the LCCL domain. Here, we have characterized the auditory phenotype associated with a genomic deletion of mouse Coch downstream of… CONTINUE READING