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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
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)
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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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory