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Symbol
Name
ID
Pth1r
parathyroid hormone 1 receptor
MGI:97801
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
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
Broad foot
Abnormality of the acetabulum
Knee flexion contracture
Advanced ossification of carpal bones
Broad palm
Cubitus valgus
Limited elbow flexion
Distal shortening of limbs
Mesomelia
Micromelia
Rhizomelia
Disease(s) Associated with PTH1R
chondrodysplasia Blomstrand type
Eiken syndrome
Jansen's metaphyseal chondrodysplasia

Mouse Phenotypes
abnormal limb morphology
long tibia
short limbs
Availability Mouse Genotype
Pth1rtm1Hmk/Pth1rtm1Hmk
Pth1rtm1Hmk/Pth1rtm3Hmk

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
02/23/2021
MGI 6.16
The Jackson Laboratory