Symbol Name ID |
Sgca
sarcoglycan, alpha (dystrophin-associated glycoprotein) MGI:894698 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Achilles tendon contracture |
Ankle flexion contracture |
Calf muscle hypertrophy |
Calf muscle pseudohypertrophy |
Scapular winging |
Limb-girdle muscle atrophy |
Limb-girdle muscular dystrophy |
Limb-girdle muscle weakness |
Flexion contracture |
EMG: myopathic abnormalities |
Difficulty climbing stairs |
Frequent falls |
Muscle weakness |
Proximal muscle weakness |
Gowers sign |
Myotonia |
Increased variability in muscle fiber diameter |
Central core regions in muscle fibers |
Increased endomysial connective tissue |
Muscle fiber necrosis |
Muscular dystrophy |
Myopathy |
Disease(s) Associated with SGCA | ||||||||||||||||||||||
autosomal recessive limb-girdle muscular dystrophy type 2D | ||||||||||||||||||||||
muscular dystrophy |
Mouse Phenotypes | muscle phenotype |
cardiac muscle necrosis |
cardiomyopathy |
increased extensor digitorum longus weight |
increased soleus weight |
abnormal muscle fiber morphology |
abnormal sarcolemma morphology |
abnormal skeletal muscle fiber morphology |
centrally nucleated skeletal muscle fibers |
increased muscle weight |
abnormal skeletal muscle morphology |
skeletal muscle fibrosis |
calcified muscle |
dystrophic muscle |
abnormal muscle physiology |
abnormal muscle contractility |
impaired skeletal muscle contractility |
|
Availability | Mouse Genotype | |||||||||||||||||
Sgcatm1Eeng/Sgcatm1Eeng | ||||||||||||||||||
Sgcatm1Isrd/Sgcatm1Isrd | * | |||||||||||||||||
Sgcatm1Kcam/Sgcatm1Kcam | * | |||||||||||||||||
Sgcatm2Kcam/Sgcatm2Kcam | ||||||||||||||||||
Sgcatm2Kcam/Sgcatm2Kcam Tg(Ckmm-cre)5Khn/0 (conditional) |
* |
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 04/23/2024 MGI 6.23 |
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