|
Symbol Name ID |
Cav3
caveolin 3 MGI:107570 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Calf muscle hypertrophy |
Calf muscle hypoplasia |
Calf muscle pseudohypertrophy |
Intrinsic hand muscle atrophy |
Hand muscle weakness |
Weakness of the intrinsic hand muscles |
Limb-girdle muscular dystrophy |
EMG abnormality |
EMG: myopathic abnormalities |
Increased muscle fatiguability |
Mitochondrial myopathy |
Muscle hyperirritability |
Muscle spasm |
Exercise-induced muscle cramps |
Exercise-induced muscle stiffness |
Muscle weakness |
Progressive distal muscle weakness |
Neck muscle weakness |
Neck flexor weakness |
Proximal muscle weakness |
Gowers sign |
Myotonia |
Muscle mounding |
Percussion-induced rapid rolling muscle contractions |
Abnormal muscle fiber morphology |
Abnormal muscle fiber protein expression |
Type 1 muscle fiber predominance |
Increased variability in muscle fiber diameter |
Central core regions in muscle fibers |
Centrally nucleated skeletal muscle fibers |
Skeletal muscle hypertrophy |
Muscular dystrophy |
Myopathy |
Inflammatory myopathy |
| Disease(s) Associated with CAV3 | ||||||||||||||||||||||||||||||||||
| distal myopathy Tateyama type | ||||||||||||||||||||||||||||||||||
| isolated elevated serum creatine phosphokinase levels | ||||||||||||||||||||||||||||||||||
| muscular dystrophy | ||||||||||||||||||||||||||||||||||
| rippling muscle disease 2 |
| Mouse Phenotypes | muscle phenotype |
abnormal atrium myocardial trabeculae morphology |
abnormal myocardial fiber morphology |
myocardial fiber disarray |
heart left ventricle hypertrophy |
decreased ventricle muscle contractility |
cardiomyopathy |
skeletal muscle fiber necrosis |
abnormal muscle development |
abnormal muscle fiber morphology |
abnormal sarcolemma morphology |
abnormal skeletal muscle fiber morphology |
increased variability of skeletal muscle fiber size |
centrally nucleated skeletal muscle fibers |
dystrophic muscle |
muscle degeneration |
myopathy |
|
| Availability | Mouse Genotype | |||||||||||||||||
| Cav3tm1Mls/Cav3tm1Mls | * | |||||||||||||||||
| Cav3tm1Ncnp/Cav3tm1Ncnp | ||||||||||||||||||
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 04/09/2024 MGI 6.23 |
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