| Primary Identifier | MGI:97800 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 19227 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable hormone activity and peptide hormone receptor binding activity. Acts upstream of or within several processes, including endochondral ossification; lung development; and mammary gland morphogenesis. Located in nucleus. Is expressed in several structures, including brain; female reproductive system; integumental system; limb; and skeleton. Used to study achondroplasia and pseudohypoparathyroidism type 1A. Human ortholog(s) of this gene implicated in brachydactyly type E2. Orthologous to human PTHLH (parathyroid hormone like hormone). PHENOTYPE: Homozygotes for targeted null mutations exhibit dischondroplasia associated with premature maturation of chondrocytes and die postnatally from asphyxia. Mutants rescued from neonatal lethality lack mammary development and tooth eruption. [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
