|
Symbol Name ID |
Acvr1
activin A receptor, type 1 MGI:87911 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Clinodactyly of the 5th finger |
Short 1st metacarpal |
Aplasia/Hypoplasia of the phalanges of the hallux |
Short hallux |
Hallux valgus |
Broad femoral neck |
Abnormality of the first metatarsal bone |
Metaphyseal widening |
Limitation of joint mobility |
Synostosis of joints |
Progressive cervical vertebral spine fusion |
Scoliosis |
Abnormal vertebral morphology |
Small cervical vertebral bodies |
Spinal rigidity |
Ectopic ossification in ligament tissue |
Ectopic ossification in muscle tissue |
Ectopic ossification in tendon tissue |
Basal ganglia calcification |
| Disease(s) Associated with ACVR1 | |||||||||||||||||||
| fibrodysplasia ossificans progressiva |
| Mouse Phenotypes | skeleton phenotype |
increased chondrocyte proliferation |
abnormal Meckel's cartilage morphology |
large anterior fontanelle |
abnormal frontal bone squamous part morphology |
abnormal mandibular fossa morphology |
absent retrotympanic process |
small temporal bone squamous part |
absent temporal bone zygomatic process |
abnormal zygomatic arch morphology |
abnormal mandible morphology |
small mandibular coronoid process |
absent mandibular symphysis |
absent temporomandibular joint |
mandible hypoplasia |
short mandible |
absent zygomatic bone |
abnormal malleus morphology |
short malleus manubrium |
abnormal phalanx morphology |
short humerus |
short radius |
broad femur neck |
short femur neck |
short femur |
short tibia |
short metatarsal bones |
increased osteochondroma incidence |
abnormal long bone epiphyseal plate morphology |
decreased width of hypertrophic chondrocyte zone |
decreased length of long bones |
abnormal costovertebral joint morphology |
abnormal cervical vertebrae morphology |
vertebral fusion |
abnormal cartilage morphology |
abnormal joint morphology |
abnormal skeleton development |
ectopic bone |
increased bone ossification |
abnormal joint mobility |
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| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||||||||||
| Acvr1tm1Emsh/Acvr1+ | |||||||||||||||||||||||||||||||||||||||||
| Acvr1tm1Glh/Acvr1+ Myod1tm2.1(icre)Glh/Myod1+ (conditional) |
* | ||||||||||||||||||||||||||||||||||||||||
| Acvr1tm1Glh/Acvr1+ Tg(Cdh5-cre)7Mlia/0 (conditional) |
* | ||||||||||||||||||||||||||||||||||||||||
| Acvr1tm1Vk/Acvr1tm1.1Vk H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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| Acvr1tm2.1Vlcg/Acvr1+ Gt(ROSA)26Sortm3.1(cre/ERT2)Vlcg/Gt(ROSA)26Sor+ (conditional) |
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| Acvr1tm2.1Vlcg/Acvr1+ Tg(Prrx1-cre)1Cjt/0 (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 04/16/2024 MGI 6.23 |
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