abnormal skeletal muscle fiber morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. (Human Phenotype Ontology, HP_0004303)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003084
Similar Terms
Downloads & Tools

Genes

138 gene mutations causing the abnormal skeletal muscle fiber morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACADVL acyl-CoA dehydrogenase, very long chain
ACTA1 actin, alpha 1, skeletal muscle
ADIPOQ adiponectin, C1Q and collagen domain containing
AFG3L2 AFG3-like AAA ATPase 2
AGTPBP1 ATP/GTP binding protein 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
APP amyloid beta (A4) precursor protein
AR androgen receptor
BAG3 BCL2-associated athanogene 3
BARX2 BARX homeobox 2
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNB1 calcium channel, voltage-dependent, beta 1 subunit
CAPN3 calpain 3, (p94)
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV2 caveolin 2
CAV3 caveolin 3
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CFL2 cofilin 2 (muscle)
CHAT choline O-acetyltransferase
CHKB choline kinase beta
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CISD2 CDGSH iron sulfur domain 2
COL13A1 collagen, type XIII, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A3 collagen, type VI, alpha 3
COMP cartilage oligomeric matrix protein
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTH cystathionine gamma-lyase
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DES desmin
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNM2 dynamin 2
DOCK1 dedicator of cytokinesis 1
DST dystonin
DUSP1 dual specificity phosphatase 1
DYSF dysferlin
EMD emerin
EP300 E1A binding protein p300
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
FBN1 fibrillin 1
FBN2 fibrillin 2
FKRP fukutin related protein
FLNC filamin C, gamma
FOXN1 forkhead box N1
FST follistatin
FZD4 frizzled class receptor 4
GAA glucosidase, alpha; acid
GARS glycyl-tRNA synthetase
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
IGHMBP2 immunoglobulin mu binding protein 2
IL6 interleukin 6
ILF3 interleukin enhancer binding factor 3, 90kDa
ITGA7 integrin, alpha 7
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
JPH1 junctophilin 1
LAMA2 laminin, alpha 2
LAMC1 laminin, gamma 1 (formerly LAMB2)
LARGE like-glycosyltransferase
LDB3 LIM domain binding 3
LEP leptin
LMNA lamin A/C
LMO7 LIM domain 7
LTN1 listerin E3 ubiquitin protein ligase 1
MAML1 mastermind-like 1 (Drosophila)
MBNL1 muscleblind-like splicing regulator 1
MBNL2 muscleblind-like splicing regulator 2
MBNL3 muscleblind-like splicing regulator 3
MEG3 maternally expressed 3 (non-protein coding)
MEOX2 mesenchyme homeobox 2
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MNX1 motor neuron and pancreas homeobox 1
MSTN myostatin
MTM1 myotubularin 1
MYF5 myogenic factor 5
MYH4 myosin, heavy chain 4, skeletal muscle
MYOF myoferlin
MYOZ1 myozenin 1
MYOZ2 myozenin 2
NCOA3 nuclear receptor coactivator 3
NEB nebulin
NFATC3 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3
NR1D1 nuclear receptor subfamily 1, group D, member 1
NRG1 neuregulin 1
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
PARL presenilin associated, rhomboid-like
PAX7 paired box 7
PFKM phosphofructokinase, muscle
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLEC plectin
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PPP3CB protein phosphatase 3, catalytic subunit, beta isozyme
PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit
RER1 retention in endoplasmic reticulum sorting receptor 1
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
RYR1 ryanodine receptor 1 (skeletal)
SAMD4A sterile alpha motif domain containing 4A
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SEPN1 selenoprotein N, 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SKI SKI proto-oncogene
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3
SMN1 survival of motor neuron 1, telomeric
SOD2 superoxide dismutase 2, mitochondrial
SRPK3 SRSF protein kinase 3
SYNE1 spectrin repeat containing, nuclear envelope 1
SYPL2 synaptophysin-like 2
TCAP titin-cap
TLN2 talin 2
TRDN triadin
TRIM32 tripartite motif containing 32
TRIM55 tripartite motif containing 55
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase
TRIM72 tripartite motif containing 72, E3 ubiquitin protein ligase
TRIO trio Rho guanine nucleotide exchange factor
TTN titin
TTPA tocopherol (alpha) transfer protein
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
VCP valosin containing protein
VEGFA vascular endothelial growth factor A
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
WASF1 WAS protein family, member 1
XK X-linked Kx blood group