|
Symbol Name ID |
Pth1r
parathyroid hormone 1 receptor MGI:97801 |
| Darker colors indicate more annotations |
| Human Phenotypes | 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 |
Broad foot |
Abnormal acetabulum morphology |
Flat acetabular roof |
Hip contracture |
Knee flexion contracture |
Advanced ossification of carpal bones |
Delayed 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 |
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| Availability | Mouse Genotype | |||
| Pth1rtm1Hmk/Pth1rtm1Hmk | ||||
| Pth1rtm1Hmk/Pth1rtm3Hmk | ||||
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 04/16/2024 MGI 6.23 |
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