abnormal synaptic vesicle morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents (Mammalian Phenotype Ontology, MP_0004769)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004769
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36 gene mutations causing the abnormal synaptic vesicle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AP3M2 adaptor-related protein complex 3, mu 2 subunit
APOE apolipoprotein E
BSN bassoon presynaptic cytomatrix protein
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CLCN3 chloride channel, voltage-sensitive 3
COL13A1 collagen, type XIII, alpha 1
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DNM1 dynamin 1
ERC2 ELKS/RAB6-interacting/CAST family member 2
FGF22 fibroblast growth factor 22
FGF7 fibroblast growth factor 7
FGFR2 fibroblast growth factor receptor 2
GDI1 GDP dissociation inhibitor 1
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
LRRTM1 leucine rich repeat transmembrane neuronal 1
MADD MAP-kinase activating death domain
MAP6 microtubule-associated protein 6
MECP2 methyl CpG binding protein 2
NBEA neurobeachin
NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase
PCDH17 protocadherin 17
PCLO piccolo presynaptic cytomatrix protein
PFN2 profilin 2
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC30A3 solute carrier family 30 (zinc transporter), member 3
STON2 stonin 2
STX1A syntaxin 1A (brain)
STX1B syntaxin 1B
SYDE1 synapse defective 1, Rho GTPase, homolog 1 (C. elegans)
SYN2 synapsin II
TNR tenascin R
UNC13A unc-13 homolog A (C. elegans)