|
Symbol Name ID |
Pth1r
parathyroid hormone 1 receptor MGI:97801 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Hip contracture |
Knee flexion contracture |
Micrognathia |
Malar flattening |
Brachycephaly |
Thick skull base |
Clinodactyly of the 5th finger |
Clubbing of fingers |
Short metacarpal |
Metaphyseal cupping |
Metaphyseal chondrodysplasia |
Flared metaphysis |
Bowing of the long bones |
Advanced tarsal ossification |
Advanced ossification of carpal bones |
Distal shortening of limbs |
Mesomelia |
Micromelia |
Rhizomelia |
Laryngeal calcification |
Abnormality of epiphysis morphology |
Short long bone |
Squared iliac bones |
Aplastic clavicle |
Broad clavicles |
Short ribs |
Short thorax |
Narrow chest |
Platyspondyly |
Increased bone mineral density |
Generalized osteosclerosis |
Osteopenia |
Synostosis of joints |
Lethal skeletal dysplasia |
Accelerated skeletal maturation |
Pathologic fracture |
| Disease(s) Associated with PTH1R | ||||||||||||||||||||||||||||||||||||
| chondrodysplasia Blomstrand type | ||||||||||||||||||||||||||||||||||||
| Jansen's metaphyseal chondrodysplasia |
| Mouse Phenotypes | skeleton phenotype |
abnormal osteoblast physiology |
foramen magnum stenosis |
abnormal neurocranium morphology |
short mandible |
domed cranium |
long tibia |
abnormal long bone epiphyseal plate morphology |
abnormal long bone epiphyseal plate proliferative zone |
abnormal long bone hypertrophic chondrocyte zone |
decreased long bone epiphyseal plate size |
increased long bone epiphyseal plate size |
decreased length of long bones |
abnormal sternum morphology |
decreased bone mineral content |
decreased bone mineral density |
abnormal trabecular bone morphology |
abnormal synchondrosis |
premature chondrocyte differentiation |
decreased chondrocyte number |
abnormal hyaline cartilage morphology |
abnormal skeleton development |
chondrodystrophy |
abnormal bone mineralization |
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| Availability | Mouse Genotype | ||||||||||||||||||||||||
| Pth1rtm1Abas/Pth1rtm1Abas | |||||||||||||||||||||||||
| Pth1rtm1Hmk/Pth1rtm1Hmk | |||||||||||||||||||||||||
| Pth1rtm3Hmk/Pth1rtm3Hmk | |||||||||||||||||||||||||
| Pth1rtm4Hmk/Pth1rtm4Hmk | |||||||||||||||||||||||||
| Pth1rtm1a(EUCOMM)Hmgu/Pth1r+ | |||||||||||||||||||||||||
| Pth1rtm1Hmk/Pth1rtm3Hmk | |||||||||||||||||||||||||
| Pth1rtm2Hmk/Pth1rtm2Hmk Tg(Col2a1-cre)1Rsjo/0 (conditional) |
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| Pth1rtm2Hmk/Pth1rtm2Hmk Tg(Bglap2-cre)1Kry/0 (conditional) |
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| Pth1rtm2Hmk/Pth1rtm2Hmk Tg(Dmp1-cre/ERT2)0022Pdp/0 (conditional) |
* | ||||||||||||||||||||||||
| Pth1rtm1Hmk/Pth1rtm2Hmk Tg(Bglap2-cre)1Kry/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 06/11/2019 MGI 6.14 |
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