Symbol Name ID |
Stac3
SH3 and cysteine rich domain 3 MGI:3606571 |
Darker colors indicate more annotations |
Human Phenotypes | Weakness of facial musculature |
Increased intramyocellular lipid droplets |
Flexion contracture |
Congenital contracture |
Arthrogryposis multiplex congenita |
Camptodactyly |
Hypotonia |
Muscle weakness |
Proximal muscle weakness |
Gowers sign |
Abnormality of skeletal muscle fiber size |
Muscle fiber atrophy |
Skeletal muscle atrophy |
Fatty replacement of skeletal muscle |
Disease(s) Associated with STAC3 | ||||||||||||||
Native American myopathy |
Mouse Phenotypes | abnormal tongue muscle morphology |
abnormal extensor digitorum longus morphology |
abnormal sarcomere morphology |
abnormal Z line morphology |
abnormal skeletal muscle fiber morphology |
increased skeletal muscle fiber diameter |
centrally nucleated skeletal muscle fibers |
decreased skeletal muscle fiber number |
abnormal skeletal muscle morphology |
abnormal diaphragm morphology |
thin diaphragm muscle |
decreased skeletal muscle mass |
impaired skeletal muscle contractility |
abnormal muscle electrophysiology |
|
Availability | Mouse Genotype | ||||||||||||||
Stac3tm1a(KOMP)Wtsi/Stac3tm1a(KOMP)Wtsi |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 08/02/2024 MGI 6.24 |
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