| Primary Identifier | MGI:97801 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 19228 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables parathyroid hormone receptor activity. Acts upstream of or within several processes, including G protein-coupled receptor signaling pathway; bone resorption; and osteoblast development. Predicted to be located in apical plasma membrane; basolateral plasma membrane; and brush border membrane. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including extraembryonic component; heart and pericardium; limb; lung; and skeleton. Human ortholog(s) of this gene implicated in Eiken syndrome; Jansen's metaphyseal chondrodysplasia; chondrodysplasia Blomstrand type; osteochondrodysplasia; and primary failure of tooth eruption. Orthologous to human PTH1R (parathyroid hormone 1 receptor). PHENOTYPE: Homozygous mutant mice die in mid-gestation or shortly after birth depending on genetic background, are small in size, have short limbs, and accelerated differentiation of chondrocytes resulting in accelerated bone mineralization. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
