|
Symbol Name ID |
Col11a1
collagen, type XI, alpha 1 MGI:88446 |
| Darker colors indicate more annotations |
| Human Phenotypes | Camptodactyly |
Camptodactyly of finger |
Joint contracture of the hand |
Micrognathia |
Hypoplasia of the maxilla |
Absent frontal sinuses |
Hypoplastic frontal sinuses |
Malar flattening |
Hypoplasia of the zygomatic bone |
Frontal bossing |
Brachycephaly |
Plagiocephaly |
Widely patent coronal suture |
Widely patent sagittal suture |
Wide anterior fontanel |
Thickened calvaria |
Short neck |
Clinodactyly of the 5th finger |
Long fingers |
Arachnodactyly |
Wide tufts of distal phalanges |
Brachydactyly |
Abnormality of femoral epiphysis |
Irregular distal femoral epiphysis |
Small distal femoral epiphysis |
Irregular femoral epiphysis |
Coxa valga |
Fibular hypoplasia |
Irregular proximal tibial epiphyses |
Small proximal tibial epiphyses |
Short foot |
Radial bowing |
Ulnar bowing |
Abnormality of the metaphysis |
Metaphyseal cupping |
Metaphyseal widening |
Dumbbell-shaped long bone |
Genu valgum |
Short palm |
Small hand |
Micromelia |
Rhizomelia |
Calcification of falx cerebri |
Meningeal calcification |
Cerebral calcification |
Abnormal diaphysis morphology |
Enlarged epiphyses |
Epiphyseal dysplasia |
Broad long bones |
Short long bone |
Narrow greater sacrosciatic notches |
Hypoplastic ilia |
Broad ischia |
Hypoplastic ischia |
Hypoplastic pubic bone |
Long clavicles |
Thin clavicles |
Abnormality of the ribs |
Short ribs |
Broad ribs |
Anterior rib cupping |
Posterior rib cupping |
Thin ribs |
Bell-shaped thorax |
Hypoplastic scapulae |
Pectus excavatum |
Thoracic hypoplasia |
Narrow chest |
Abnormal form of the vertebral bodies |
Beaking of vertebral bodies |
Platyspondyly |
Posterior vertebral hypoplasia |
Morbus Scheuermann |
Kyphosis |
Scoliosis |
Spondylolisthesis |
Osteoarthritis |
Premature osteoarthritis |
Arthropathy |
Spondyloepiphyseal dysplasia |
Joint hypermobility |
| Disease(s) Associated with COL11A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fibrochondrogenesis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Marshall syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stickler syndrome |
| Mouse Phenotypes | short mandible |
small Meckel's cartilage |
osteoarthritis |
abnormal knee joint morphology |
abnormal tracheal cartilage morphology |
abnormal long bone diaphysis morphology |
abnormal long bone epiphyseal plate morphology |
abnormal long bone epiphyseal plate proliferative zone |
abnormal long bone metaphysis morphology |
decreased length of long bones |
increased diameter of long bones |
abnormal costal cartilage morphology |
abnormal bone marrow cavity morphology |
abnormal trabecular bone morphology |
abnormal chondrocyte morphology |
abnormal hyaline cartilage morphology |
abnormal epiphyseal plate morphology |
decreased bone mineralization |
abnormal endochondral bone ossification |
abnormal joint mobility |
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| Availability | Mouse Genotype | ||||||||||||||||||||
| Col11a1cho/Col11a1cho | |||||||||||||||||||||
| Col11a1cho/Col11a1+ | |||||||||||||||||||||
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 12/03/2019 MGI 6.14 |
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