| Primary Identifier | MGI:2146663 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 210530 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable procollagen-proline 3-dioxygenase activity. Predicted to be involved in collagen metabolic process; negative regulation of cell population proliferation; and peptidyl-proline hydroxylation. Located in basement membrane. Is expressed in several structures, including central nervous system; limb bud; musculoskeletal system; renal cortex; and sensory organ. Orthologous to human P3H2 (prolyl 3-hydroxylase 2). PHENOTYPE: Mice homozygous for a knock-out allele of exon 2 exhibit embryonic lethality between E8.5 and E12.5 with maternal platelets aggregate around the ectoplacental cone. Exon 3 knockouts are viable but mice exhibit reduced hydroxylation of collagen chains, especially in the sclera, leading to eye tissue dysmorphology and progressive myopia. [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
