|
Symbol Name ID |
Col11a1
collagen, type XI, alpha 1 MGI:88446 |
| Darker colors indicate more annotations |
| Human Phenotypes | Radial bowing |
Ulnar bowing |
Genu valgum |
Clinodactyly of the 4th finger |
Clinodactyly of the 5th finger |
Long fingers |
Arachnodactyly |
Wide tufts of distal phalanges |
Irregular distal femoral epiphysis |
Small distal femoral epiphysis |
Irregular femoral epiphysis |
Irregular proximal tibial epiphyses |
Small proximal tibial epiphyses |
Coxa valga |
Fibular hypoplasia |
Short foot |
Dumbbell-shaped long bone |
Short palm |
Small hand |
Knee osteoarthritis |
Joint contracture of the hand |
Rhizomelia |
| Disease(s) Associated with COL11A1 | ||||||||||||||||||||||
| fibrochondrogenesis 1 | ||||||||||||||||||||||
| Marshall syndrome | ||||||||||||||||||||||
| Stickler syndrome 2 |
| Mouse Phenotypes | abnormal limb morphology |
abnormal hindlimb morphology |
abnormal knee joint morphology |
micromelia |
abnormal tail morphology |
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| Availability | Mouse Genotype | |||||
| Col11a1cho/Col11a1cho | ||||||
| Col11a1em1(IMPC)Bay/Col11a1em1(IMPC)Bay | ||||||
| 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 04/23/2024 MGI 6.23 |
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