abnormal neuromuscular synapse morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the membrane to membrane contact of a motor axon and a muscle myofiber that is responsible for the transmission of nerve impulses (Mammalian Phenotype Ontology, MP_0001053)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001053
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Genes

64 gene mutations causing the abnormal neuromuscular synapse morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AFG3L2 AFG3-like AAA ATPase 2
AGRN agrin
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
BASP1 brain abundant, membrane attached signal protein 1
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CHAT choline O-acetyltransferase
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLIP3 CAP-GLY domain containing linker protein 3
CLP1 cleavage and polyadenylation factor I subunit 1
COL13A1 collagen, type XIII, alpha 1
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCTN1 dynactin 1
DMD dystrophin
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DOK7 docking protein 7
DST dystonin
DTNA dystrobrevin, alpha
ECEL1 endothelin converting enzyme-like 1
EDNRB endothelin receptor type B
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EGR2 early growth response 2
FBXO45 F-box protein 45
GARS glycyl-tRNA synthetase
GPHN gephyrin
HSPG2 heparan sulfate proteoglycan 2
IGHMBP2 immunoglobulin mu binding protein 2
KALRN kalirin, RhoGEF kinase
KY kyphoscoliosis peptidase
LAMB2 laminin, beta 2 (laminin S)
LGALS1 lectin, galactoside-binding, soluble, 1
LRP4 low density lipoprotein receptor-related protein 4
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
MADD MAP-kinase activating death domain
MMP3 matrix metallopeptidase 3
MNX1 motor neuron and pancreas homeobox 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
NES nestin
NRG1 neuregulin 1
PRKCQ protein kinase C, theta
RAPSN receptor-associated protein of the synapse
RER1 retention in endoplasmic reticulum sorting receptor 1
RET ret proto-oncogene
RND3 Rho family GTPase 3
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SKOR2 SKI family transcriptional corepressor 2
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SMN1 survival of motor neuron 1, telomeric
SNTA1 syntrophin, alpha 1
SYNE1 spectrin repeat containing, nuclear envelope 1
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
UTP14C UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)
UTRN utrophin