decreased skeletal muscle fiber number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description decreased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles (Mammalian Phenotype Ontology, MP_0009406)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009406
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Genes

12 gene mutations causing the decreased skeletal muscle fiber number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
DES desmin
FKRP fukutin related protein
FLNC filamin C, gamma
GARS glycyl-tRNA synthetase
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
LAMA2 laminin, alpha 2
MBNL3 muscleblind-like splicing regulator 3
MYH4 myosin, heavy chain 4, skeletal muscle
NFATC3 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
RYR1 ryanodine receptor 1 (skeletal)