abnormal cochlear hair cell inter-stereocilial links morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly in the morphologically and biochemically distinct link types that extend between the stereocilia of cochlear hair bundles; link types can be distinguished by their relative sensitivities to treatment with calcium chelators and the protease subtilisin; in the mature mouse cochlea, tip links and horizontal top connectors are the only inter-stereocilial links associated with the hair bundle; ankle links and transient lateral links are both prominent features of developing auditory hair bundles (Mammalian Phenotype Ontology, MP_0004577)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004577
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7 gene mutations causing the abnormal cochlear hair cell inter-stereocilial links morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADGRV1 adhesion G protein-coupled receptor V1
CDH23 cadherin-related 23
GRXCR1 glutaredoxin, cysteine rich 1
MYO7A myosin VIIA
PCDH15 protocadherin-related 15
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)