decreased paired-pulse facilitation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduction in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus (Mammalian Phenotype Ontology, MP_0002920)
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17 gene mutations causing the decreased paired-pulse facilitation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATXN1 ataxin 1
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CHRM1 cholinergic receptor, muscarinic 1
FBXL20 F-box and leucine-rich repeat protein 20
GRIK2 glutamate receptor, ionotropic, kainate 2
GRIK3 glutamate receptor, ionotropic, kainate 3
GRM4 glutamate receptor, metabotropic 4
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
LYNX1 Ly6/neurotoxin 1
MAPK9 mitogen-activated protein kinase 9
PFN2 profilin 2
RIMS1 regulating synaptic membrane exocytosis 1
SCT secretin
SNAP25 synaptosomal-associated protein, 25kDa
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VDAC3 voltage-dependent anion channel 3