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 | Brachycephaly |
Dolichocephaly |
Thickened calvaria |
Micrognathia |
Malar flattening |
Thick skull base |
Bowing of the long bones |
Clinodactyly of the 5th finger |
Short middle phalanx of finger |
Short phalanx of finger |
Abnormal fingertip morphology |
Clubbing of fingers |
Long thumb |
Long hallux |
Short toe |
Clinodactyly |
Type A1 brachydactyly |
Broad femoral neck |
Fibular hypoplasia |
Broad metatarsal |
Advanced tarsal ossification |
Delayed tarsal ossification |
Short foot |
Metaphyseal cupping |
Metaphyseal chondrodysplasia |
Metaphyseal irregularity |
Flared metaphysis |
Short metacarpal |
Short palm |
Abnormal acetabulum morphology |
Flat acetabular roof |
Hip contracture |
Knee flexion contracture |
Advanced ossification of carpal bones |
Delayed ossification of carpal bones |
Cubitus valgus |
Limited elbow flexion |
Distal shortening of limbs |
Mesomelia |
Micromelia |
Rhizomelia |
Limited hip movement |
Synostosis of joints |
Accelerated skeletal maturation |
Pathologic fracture |
Abnormal epiphysis morphology |
Delayed epiphyseal ossification |
Epiphyseal dysplasia |
Flattened epiphysis |
Pseudoepiphyses |
Short long bone |
High iliac wing |
Squared iliac bones |
Narrow pelvis bone |
Aplastic clavicle |
Broad clavicles |
Short ribs |
Broad ribs |
Short thorax |
Narrow chest |
Absence of the sacrum |
Abnormal vertebral morphology |
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 density of vertebrae |
decreased bone mineral content |
decreased bone mineral density of femur |
abnormal trabecular bone morphology |
abnormal synchondrosis |
premature chondrocyte differentiation |
decreased chondrocyte number |
abnormal hyaline cartilage morphology |
abnormal skeleton development |
chondrodystrophy |
abnormal bone mineralization |
|
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) |
||||||||||||||||||||||||||
Pth1rtm2Hmk/Pth1rtm2Hmk Tg(Bglap2-cre)1Kry/0 (conditional) |
||||||||||||||||||||||||||
Pth1rtm2Hmk/Pth1rtm2Hmk Tg(Dmp1-cre/ERT2)0022Pdp/0 (conditional) |
* | |||||||||||||||||||||||||
Pth1rtm1Hmk/Pth1rtm2Hmk Tg(Bglap2-cre)1Kry/0 (conditional) |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/30/2024 MGI 6.23 |
|
|