absent active-zone-anchored inner hair cell synaptic ribbon Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence or loss of the usually single synaptic ribbon, a characteristic osmiophilic, electron-dense structure to which synaptic vesicles are tethered at the active zone of the cochlear inner hair cell afferent synapse (Mammalian Phenotype Ontology, MP_0004563)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004563
Similar Terms
Downloads & Tools

Genes

2 gene mutations causing the absent active-zone-anchored inner hair cell synaptic ribbon 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