decreased skeletal muscle fiber size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description decrease in the size of the large multinucleated cells that make up the skeletal muscles (Mammalian Phenotype Ontology, MP_0009400)
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63 gene mutations causing the decreased skeletal muscle fiber size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
AFG3L2 AFG3-like AAA ATPase 2
AGTPBP1 ATP/GTP binding protein 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AR androgen receptor
BARX2 BARX homeobox 2
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CAPN3 calpain 3, (p94)
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CHAT choline O-acetyltransferase
COL13A1 collagen, type XIII, alpha 1
CTH cystathionine gamma-lyase
DES desmin
DMPK dystrophia myotonica-protein kinase
DNM2 dynamin 2
DOCK1 dedicator of cytokinesis 1
DST dystonin
DUSP1 dual specificity phosphatase 1
EP300 E1A binding protein p300
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
FBN2 fibrillin 2
FOXN1 forkhead box N1
FZD4 frizzled class receptor 4
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IGHMBP2 immunoglobulin mu binding protein 2
ITGA7 integrin, alpha 7
LAMC1 laminin, gamma 1 (formerly LAMB2)
LDB3 LIM domain binding 3
LEP leptin
LMNA lamin A/C
LTN1 listerin E3 ubiquitin protein ligase 1
MBNL2 muscleblind-like splicing regulator 2
MBNL3 muscleblind-like splicing regulator 3
MNX1 motor neuron and pancreas homeobox 1
MTM1 myotubularin 1
MYH4 myosin, heavy chain 4, skeletal muscle
MYOZ1 myozenin 1
MYOZ2 myozenin 2
NEB nebulin
PARL presenilin associated, rhomboid-like
PAX7 paired box 7
PLEC plectin
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
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)
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SEPN1 selenoprotein N, 1
SKI SKI proto-oncogene
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SMN1 survival of motor neuron 1, telomeric
SOD2 superoxide dismutase 2, mitochondrial
SYPL2 synaptophysin-like 2
TCAP titin-cap
TRIM32 tripartite motif containing 32
TRIM72 tripartite motif containing 72, E3 ubiquitin protein ligase
TTN titin
TTPA tocopherol (alpha) transfer protein
VEGFA vascular endothelial growth factor A
WASF1 WAS protein family, member 1