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Symbol Name ID |
P3h1
prolyl 3-hydroxylase 1 MGI:1888921 |
| Darker colors indicate more annotations |
| Human Phenotypes | Decreased calvarial ossification |
Decreased skull ossification |
Wormian bones |
Wide anterior fontanel |
Dentinogenesis imperfecta |
Radial bowing |
Femoral bowing |
Tibial bowing |
Femoral retroversion |
Short metacarpal |
Joint hypermobility |
Multiple prenatal fractures |
Recurrent fractures |
Slender long bone |
Thin ribs |
Barrel-shaped chest |
Kyphosis |
Scoliosis |
Platyspondyly |
Vertebral compression fracture |
Type 1 collagen overmodification |
Osteopenia |
| Disease(s) Associated with P3H1 | ||||||||||||||||||||||
| osteogenesis imperfecta type 8 |
| Mouse Phenotypes | abnormal femur morphology |
short femur |
abnormal tendon morphology |
abnormal long bone hypertrophic chondrocyte zone |
decreased length of long bones |
kyphoscoliosis |
abnormal bone collagen fibril morphology |
decreased bone mineral content |
decreased bone mineral density |
decreased trabecular bone volume |
abnormal trabecular bone morphology |
decreased bone trabecula number |
decreased trabecular bone mass |
decreased trabecular bone thickness |
delayed bone ossification |
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| Availability | Mouse Genotype | |||||||||||||||
| P3h1tm1.1Brle/P3h1tm1.1Brle | ||||||||||||||||
| P3h1tm1b(EUCOMM)Wtsi/P3h1tm1b(EUCOMM)Wtsi | ||||||||||||||||
| P3h1tm1Dgen/P3h1tm1Dgen | ||||||||||||||||
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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