abnormal miniature endplate potential Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description defect in the size or duration of spontaneous currents detected in PNS postsynaptic cells that occur in the absence of an excitatory impulse (Mammalian Phenotype Ontology, MP_0004835)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004835
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22 gene mutations causing the abnormal miniature endplate potential phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AFG3L2 AFG3-like AAA ATPase 2
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CHAT choline O-acetyltransferase
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL13A1 collagen, type XIII, alpha 1
HSPG2 heparan sulfate proteoglycan 2
LAMB2 laminin, beta 2 (laminin S)
MMP3 matrix metallopeptidase 3
MUSK muscle, skeletal, receptor tyrosine kinase
NBEA neurobeachin
NRG1 neuregulin 1
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SMN1 survival of motor neuron 1, telomeric
SYT2 synaptotagmin II
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
UTRN utrophin