abnormal inner hair cell synaptic ribbon morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly in the presynaptic active zone of mature cochlear IHCs which usually contain a single synaptic ribbon, i.e. a submicrometer, electron-dense structure tethering synaptic vesicles; each spiral ganglion neuron receives input from only one IHC synapse (Mammalian Phenotype Ontology, MP_0004562)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004562
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Genes

5 gene mutations causing the abnormal inner hair cell synaptic ribbon morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BSN bassoon presynaptic cytomatrix protein
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
OTOF otoferlin
PAX8 paired box 8
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8