|
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 | Facial palsy |
Congenital muscular torticollis |
Torticollis |
Camptodactyly of finger |
Finger joint contracture |
Ankle contracture |
Shoulder girdle muscle atrophy |
Limb-girdle muscle weakness |
Flexion contracture |
Arthrogryposis multiplex congenita |
Elbow contracture |
Neonatal hypotonia |
EMG: myopathic abnormalities |
Difficulty climbing stairs |
Difficulty running |
Axial muscle weakness |
Distal muscle weakness |
Neck muscle weakness |
Proximal muscle weakness |
Respiratory insufficiency due to muscle weakness |
Reduced muscle collagen VI |
Fiber type grouping |
Type 1 muscle fiber predominance |
Increased variability in muscle fiber diameter |
Centrally nucleated skeletal muscle fibers |
Muscle fiber necrosis |
Fatty replacement of skeletal muscle |
Muscular dystrophy |
Myopathy |
Skeletal muscle atrophy |
Distal lower limb amyotrophy |
Generalized amyotrophy |
| Disease(s) Associated with COL6A1 | ||||||||||||||||||||||||||||||||
| Bethlem myopathy | ||||||||||||||||||||||||||||||||
| Ullrich congenital muscular dystrophy 1A |
| Mouse Phenotypes | muscle phenotype |
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 |
skeletal muscle necrosis |
impaired skeletal muscle contractility |
muscle weakness |
myopathy |
|
| 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 03/18/2025 MGI 6.24 |
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