abnormal muscle tone Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004142
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Genes

49 gene mutations causing the abnormal muscle tone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADRA1D adrenoceptor alpha 1D
ASPA aspartoacylase
ATCAY ataxia, cerebellar, Cayman type
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
BTD biotinidase
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CHAT choline O-acetyltransferase
CLCN1 chloride channel, voltage-sensitive 1
DMD dystrophin
DSCAM Down syndrome cell adhesion molecule
DST dystonin
ERCC1 excision repair cross-complementation group 1
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
HCRT hypocretin (orexin) neuropeptide precursor
HCRTR2 hypocretin (orexin) receptor 2
HIPK2 homeodomain interacting protein kinase 2
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
HTRA2 HtrA serine peptidase 2
INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
MYOZ1 myozenin 1
NDN necdin, melanoma antigen (MAGE) family member
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
OLIG2 oligodendrocyte lineage transcription factor 2
PCDH15 protocadherin-related 15
PEX13 peroxisomal biogenesis factor 13
PEX7 peroxisomal biogenesis factor 7
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTS 6-pyruvoyltetrahydropterin synthase
RUNX3 runt-related transcription factor 3
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SOD2 superoxide dismutase 2, mitochondrial
SOX2 SRY (sex determining region Y)-box 2
TARDBP TAR DNA binding protein
TTPA tocopherol (alpha) transfer protein
TWIST2 twist family bHLH transcription factor 2
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
WNT1 wingless-type MMTV integration site family, member 1
ZIC1 Zic family member 1