abnormal cns synapse formation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the process of generating the initial connections between an axon and effector tissue or neuron (Mammalian Phenotype Ontology, MP_0004996)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004996
Similar Terms
Downloads & Tools


21 gene mutations causing the abnormal cns synapse formation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACTL6B actin-like 6B
AGRN agrin
ARHGEF5 Rho guanine nucleotide exchange factor (GEF) 5
BCL2L2 BCL2-like 2
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D1A coiled-coil and C2 domain containing 1A
CHRM1 cholinergic receptor, muscarinic 1
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
GRID2 glutamate receptor, ionotropic, delta 2
KALRN kalirin, RhoGEF kinase
KLK8 kallikrein-related peptidase 8
LRRTM4 leucine rich repeat transmembrane neuronal 4
MECP2 methyl CpG binding protein 2
NLGN3 neuroligin 3
NRN1 neuritin 1
PURA purine-rich element binding protein A
SHANK1 SH3 and multiple ankyrin repeat domains 1
STAU1 staufen double-stranded RNA binding protein 1
SYN1 synapsin I
SYN2 synapsin II