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Symbol
Name
ID
Pth1r
parathyroid hormone 1 receptor
MGI:97801
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Micrognathia
Malar flattening
Brachycephaly
Thick skull base
Long philtrum
Natal tooth
Misalignment of teeth
Protruding tongue
Anteverted nares
Short nose
Choanal atresia
Choanal stenosis
Depressed nasal bridge
Telecanthus
Prominent supraorbital arches in adult
Disease(s) Associated with PTH1R
chondrodysplasia Blomstrand type
Jansen's metaphyseal chondrodysplasia

Mouse Phenotypes
foramen magnum stenosis
abnormal neurocranium morphology
short mandible
domed cranium
protruding tongue
short snout
Availability Mouse Genotype
Pth1rtm1Hmk/Pth1rtm1Hmk

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
06/18/2019
MGI 6.14
The Jackson Laboratory