Symbol Name ID |
Col6a1
collagen, type VI, alpha 1 MGI:88459 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Congenital muscular torticollis |
Torticollis |
Camptodactyly of finger |
Ankle flexion contracture |
Knee flexion contracture |
Limb-girdle muscle weakness |
Elbow flexion contracture |
Flexion contracture |
Generalized hypotonia |
Neonatal hypotonia |
EMG: myopathic abnormalities |
Frequent falls |
Muscle weakness |
Diaphragmatic weakness |
Distal muscle weakness |
Generalized muscle weakness |
Proximal muscle weakness |
Respiratory insufficiency due to muscle weakness |
Abnormal muscle fiber morphology |
Increased variability in muscle fiber diameter |
Increased endomysial connective tissue |
Skeletal muscle atrophy |
Generalized amyotrophy |
Myopathy |
Disease(s) Associated with COL6A1 | ||||||||||||||||||||||||
Bethlem myopathy | ||||||||||||||||||||||||
Ullrich congenital muscular dystrophy |
Mouse Phenotypes | muscle phenotype |
skeletal muscle necrosis |
abnormal muscle morphology |
abnormal muscle development |
abnormal skeletal muscle fiber morphology |
increased variability of skeletal muscle fiber size |
centrally nucleated skeletal muscle fibers |
decreased skeletal muscle fiber number |
abnormal skeletal muscle morphology |
abnormal diaphragm morphology |
abnormal intercostal muscle morphology |
decreased skeletal muscle size |
decreased skeletal muscle mass |
skeletal muscle endomysial fibrosis |
impaired skeletal muscle contractility |
muscle weakness |
myopathy |
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Availability | Mouse Genotype | |||||||||||||||||
Col6a1tm1Gmb/Col6a1tm1Gmb | * | |||||||||||||||||
Col6a1tm1Sngi/Col6a1tm1Sngi | ||||||||||||||||||
Col6a1tm1Gmb/Col6a1+ |
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 05/07/2024 MGI 6.23 |
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