decreased skeletal muscle fiber diameter Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description decreased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge (Mammalian Phenotype Ontology, MP_0009402)
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26 gene mutations causing the decreased skeletal muscle fiber diameter phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
BARX2 BARX homeobox 2
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CAPN3 calpain 3, (p94)
COL13A1 collagen, type XIII, alpha 1
CTH cystathionine gamma-lyase
DMPK dystrophia myotonica-protein kinase
DNM2 dynamin 2
DOCK1 dedicator of cytokinesis 1
DUSP1 dual specificity phosphatase 1
FBN2 fibrillin 2
FZD4 frizzled class receptor 4
LAMC1 laminin, gamma 1 (formerly LAMB2)
PARL presenilin associated, rhomboid-like
PAX7 paired box 7
PLEC plectin
PPP3CB protein phosphatase 3, catalytic subunit, beta isozyme
RER1 retention in endoplasmic reticulum sorting receptor 1
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
RYR1 ryanodine receptor 1 (skeletal)
SEPN1 selenoprotein N, 1
SKI SKI proto-oncogene
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
TCAP titin-cap
TRIM32 tripartite motif containing 32
TRIM72 tripartite motif containing 72, E3 ubiquitin protein ligase