|
Symbol Name ID |
Col11a2
collagen, type XI, alpha 2 MGI:88447 |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Micrognathia |
Malar flattening |
Prominent interphalangeal joints |
Short phalanx of finger |
Aplasia/Hypoplasia of the capital femoral epiphysis |
Large tarsal bones |
Metaphyseal cupping |
Metaphyseal widening |
Flared metaphysis |
Short 5th metacarpal |
Short palm |
Flexion contracture |
Enlarged epiphyses |
Epiphyseal dysplasia |
Short long bone |
Hypoplastic ilia |
Hypoplastic ischia |
Hypoplastic pubic bone |
Short ribs |
Cupped ribs |
Bell-shaped thorax |
Thoracic hypoplasia |
Lumbar hyperlordosis |
Beaking of vertebral bodies |
Platyspondyly |
Coronal cleft vertebrae |
Premature osteoarthritis |
Enlarged joints |
| Disease(s) Associated with COL11A2 | |||||||||||||||||||||||||||||
| fibrochondrogenesis 2 | |||||||||||||||||||||||||||||
| otospondylomegaepiphyseal dysplasia, autosomal dominant | |||||||||||||||||||||||||||||
| otospondylomegaepiphyseal dysplasia, autosomal recessive |
| Mouse Phenotypes | abnormal cranium morphology |
abnormal nasal bone morphology |
disorganized long bone epiphyseal plate |
abnormal chondrocyte morphology |
abnormal articular cartilage morphology |
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| Availability | Mouse Genotype | |||||
| Col11a2tm1Mne/Col11a2tm1Mne | ||||||
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 04/09/2024 MGI 6.23 |
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