|
Symbol Name ID |
Pth1r
parathyroid hormone 1 receptor MGI:97801 |
| Darker colors indicate more annotations |
| Human Phenotypes | Brachycephaly |
Dolichocephaly |
Thickened calvaria |
Micrognathia |
Malar flattening |
Thick skull base |
Midface retrusion |
Prominent forehead |
Thick lower lip vermilion |
Long philtrum |
Short philtrum |
Protruding tongue |
Hypodontia |
Oligodontia |
Natal tooth |
Eruption failure |
Failure of eruption of permanent teeth |
Multiple impacted teeth |
Multiple unerupted teeth |
Persistence of primary teeth |
Tooth malposition |
Choanal atresia |
Choanal stenosis |
Anteverted nares |
Depressed nasal bridge |
Short nose |
Telecanthus |
Prominent supraorbital arches in adult |
| Disease(s) Associated with PTH1R | ||||||||||||||||||||||||||||
| chondrodysplasia Blomstrand type | ||||||||||||||||||||||||||||
| Eiken syndrome | ||||||||||||||||||||||||||||
| Jansen's metaphyseal chondrodysplasia | ||||||||||||||||||||||||||||
| primary failure of tooth eruption |
| Mouse Phenotypes | foramen magnum stenosis |
abnormal neurocranium morphology |
short mandible |
domed cranium |
protruding tongue |
short snout |
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| Availability | Mouse Genotype | ||||||
| Pth1rtm1Hmk/Pth1rtm1Hmk | |||||||
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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