| Primary Identifier | MGI:1338946 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 11482 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including ATP binding activity; activin binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in several processes, including circulatory system development; regulation of endothelial cell differentiation; and regulation of endothelial cell proliferation. Acts upstream of or within several processes, including angiogenesis; positive regulation of angiogenesis; and transforming growth factor beta receptor superfamily signaling pathway. Predicted to be located in cell surface; dendrite; and neuronal cell body. Predicted to be part of BMP receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and immune system. Used to study arteriovenous malformations of the brain; hereditary hemorrhagic telangiectasia; and obstructive nephropathy. Human ortholog(s) of this gene implicated in hereditary hemorrhagic telangiectasia and pulmonary hypertension. Orthologous to human ACVRL1 (activin A receptor like type 1). PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene die at midgestation with severe vascular abnormalities, including fusion of major arteries and veins. Mice heterozygous for one targeted mutation provide a suitable model for hereditary hemorrhagic telangiectasia type 2. [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
