| Primary Identifier | MGI:88382 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 14067 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable copper ion binding activity. Acts upstream of or within blood circulation and blood coagulation. Located in extracellular space and platelet alpha granule. Is expressed in embryo; liver; liver left lobe; liver right lobe; and notochord. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); end stage renal disease; factor V deficiency; liver disease (multiple); and non-arteritic anterior ischemic optic neuropathy. Orthologous to human F5 (coagulation factor V). PHENOTYPE: Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis. [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
