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Symbol Name ID |
Col12a1
collagen, type XII, alpha 1 MGI:88448 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Camptodactyly of finger |
Increased laxity of fingers |
Ankle flexion contracture |
Hip dislocation |
Increased laxity of ankles |
Elbow flexion contracture |
Flexion contracture |
Joint hypermobility |
Distal joint hypermobility |
Wrist hypermobility |
Kyphosis |
Scoliosis |
Spinal rigidity |
| Disease(s) Associated with COL12A1 | |||||||||||||
| Bethlem myopathy | |||||||||||||
| Ullrich congenital muscular dystrophy |
| Mouse Phenotypes | skeleton phenotype |
abnormal osteoblast physiology |
abnormal femur morphology |
decreased diameter of femur |
short femur |
abnormal skeleton morphology |
abnormal vertebral column morphology |
kyphosis |
kyphoscoliosis |
abnormal vertebral spinous process morphology |
abnormal bone structure |
abnormal compact bone morphology |
abnormal osteoblast morphology |
abnormal cartilage development |
abnormal skeleton development |
abnormal skeleton physiology |
decreased bone mineralization |
decreased bone ossification |
decreased bone strength |
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| Availability | Mouse Genotype | |||||||||||||||||||
| Col12a1tm1Debi/Col12a1tm1Debi | * | |||||||||||||||||||
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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