|
Symbol Name ID |
Ext1
exostosin glycosyltransferase 1 MGI:894663 |
| Darker colors indicate more annotations |
| Human Phenotypes | Bowing of the long bones |
Genu valgum |
Abnormal lower limb bone morphology |
Abnormal femur morphology |
Coxa valga |
Coxa vara |
Abnormal fibula morphology |
Abnormal tibia morphology |
Abnormality of the tarsal bones |
Short lower limbs |
Metaphyseal widening |
Deformed radius |
Madelung-like forearm deformities |
Abnormal morphology of ulna |
Forearm undergrowth |
Deformed forearm bones |
Short metacarpal |
Femoroacetabular impingement |
Talipes valgus |
Abnormality of the knee |
Limitation of knee mobility |
Abnormal carpal morphology |
Limb undergrowth |
Limitation of joint mobility |
Limited hip movement |
Protuberances at ends of long bones |
Short long bone |
Abnormal pelvis bone morphology |
Pelvic bone exostoses |
Rib exostoses |
Scapular exostoses |
Neuropathic spinal arthropathy |
Abnormal bone structure |
Abnormal cartilage morphology |
Arthritis |
Bursitis |
Bone fracture |
Chondrosarcoma |
Multiple exostoses |
Osteochondroma |
| Disease(s) Associated with EXT1 | ||||||||||||||||||||||||||||||||||||||||
| chondrosarcoma | ||||||||||||||||||||||||||||||||||||||||
| hereditary multiple exostoses |
| Mouse Phenotypes | abnormal basicranium morphology |
abnormal cranial synchondrosis |
dislocated radius head |
bowed radius |
increased diameter of radius |
increased diameter of ulna |
increased osteochondroma incidence |
abnormal skeleton morphology |
abnormal long bone epiphyseal plate proliferative zone |
scoliosis |
exostosis |
abnormal cartilage morphology |
abnormal cartilage development |
abnormal epiphyseal plate morphology |
|
| Availability | Mouse Genotype | ||||||||||||||
| Ext1tm1.1Yama/Ext1+ | |||||||||||||||
| Ext1tm1Dews/Ext1+ | |||||||||||||||
| Ext1tm1.1Vcs/Ext1tm1.1Vcs Tg(Col2a1-rtTA,tetO-cre)22Pjro/0 (conditional) |
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| Ext1tm1.1Vcs/Ext1tm1.1Vcs Tg(Col2a1-cre/ERT)KA3Smac/0 (conditional) |
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| Ext1tm1Vcs/Ext1tm1Vcs Tg(Col2a1-rtTA,tetO-cre)22Pjro/0 (conditional) |
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| Ext1tm1Yama/Ext1tm1Yama Tg(Col2a1-cre/ERT)KA3Smac/0 (conditional) |
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| Ext1tm1Yama/Ext1tm1Yama Acantm1(cre/ERT2)Crm/Acan+ (conditional) |
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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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