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Symbol
Name
ID
Pth1r
parathyroid hormone 1 receptor
MGI:97801
Phenotype annotations related to skeleton
*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
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)

Contributing Projects:
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
The Jackson Laboratory