abnormal synaptic acetylcholine release Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description aberrant release into synapses of the excitatory neurotransmitter found at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system (Mammalian Phenotype Ontology, MP_0004836)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004836
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Genes

6 gene mutations causing the abnormal synaptic acetylcholine release phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CHAT choline O-acetyltransferase
COL13A1 collagen, type XIII, alpha 1
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7