abnormal cochlear outer hair cell physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly in processes pertinent to the function of cochlear OHCs which are known to enhance the performance of the cochlea, both qualitatively (increased selectivity) and quantitatively (increased sensitivity); in addition to the mechanoelectric transduction required for auditory sensation, OHCs also perform electromechanical transduction, whereby transmembrane voltage drives rapid changes in the length and stiffness of OHCs at audio frequencies in vitro (electromotility) (Mammalian Phenotype Ontology, MP_0004434)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004434
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21 gene mutations causing the abnormal cochlear outer hair cell physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADGRV1 adhesion G protein-coupled receptor V1
ALG10 ALG10, alpha-1,2-glucosyltransferase
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CDH23 cadherin-related 23
CHD7 chromodomain helicase DNA binding protein 7
CHRNA10 cholinergic receptor, nicotinic, alpha 10 (neuronal)
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CLRN1 clarin 1
ESPN espin
HPN hepsin
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4
MYO7A myosin VIIA
OTOS otospiralin
PDZD7 PDZ domain containing 7
PSAP prosaposin
SLC26A5 solute carrier family 26 (anion exchanger), member 5
STRC stereocilin
TECTA tectorin alpha
THRB thyroid hormone receptor, beta
USH1G Usher syndrome 1G (autosomal recessive)