|
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 | Micrognathia |
Malar flattening |
Brachycephaly |
Thick skull base |
Bowing of the long bones |
Clinodactyly of the 5th finger |
Short phalanx of finger |
Abnormal fingertip morphology |
Clubbing of fingers |
Short toe |
Brachydactyly |
Fibular hypoplasia |
Advanced tarsal ossification |
Short foot |
Short metacarpal |
Metaphyseal cupping |
Metaphyseal chondrodysplasia |
Metaphyseal irregularity |
Flared metaphysis |
Short palm |
Abnormality of the acetabulum |
Knee flexion contracture |
Advanced ossification of carpal bones |
Cubitus valgus |
Limited elbow flexion |
Distal shortening of limbs |
Mesomelia |
Micromelia |
Rhizomelia |
Hip contracture |
Limited hip movement |
Synostosis of joints |
Accelerated skeletal maturation |
Pathologic fracture |
Abnormality of epiphysis morphology |
Delayed epiphyseal ossification |
Epiphyseal dysplasia |
Short long bone |
Narrow pelvis bone |
High iliac wings |
Squared iliac bones |
Aplastic clavicle |
Broad clavicles |
Short ribs |
Short thorax |
Narrow chest |
Absence of the sacrum |
Platyspondyly |
Abnormal bone ossification |
Increased bone mineral density |
Generalized osteosclerosis |
Osteopenia |
Thin bony cortex |
Abnormal trabecular bone morphology |
Skeletal dysplasia |
Lethal skeletal dysplasia |
Laryngeal calcification |
| Disease(s) Associated with PTH1R | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| chondrodysplasia Blomstrand type | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eiken syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 02/16/2021 MGI 6.16 |
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