abnormal cochlear hair bundle tip links morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly in single, three-stranded interrow filaments that extend obliquely from the tip of one stereocilium to the lateral side of an adjacent taller stereocilium; in the mouse, tip links are already detectable prenatally and persist throughout life; tips links are thought to gate the mechanotransducer channel, are lost from the cell surface after exposure to either calcium chelator BAPTA or lanthanum, and resist degradation by the protease subtilisin (Mammalian Phenotype Ontology, MP_0004578)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004578
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4 gene mutations causing the abnormal cochlear hair bundle tip links morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CDH23 cadherin-related 23
GRXCR1 glutaredoxin, cysteine rich 1
PCDH15 protocadherin-related 15
USH1C Usher syndrome 1C (autosomal recessive, severe)