Primary Identifier | MGI:1321394 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 12165 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable cytokine activity; growth factor activity; and protein serine/threonine kinase activator activity. Involved in several processes, including blood vessel morphogenesis; positive regulation of BMP signaling pathway; and positive regulation of endothelial cell differentiation. Acts upstream of or within osteoblast differentiation; positive regulation of gene expression; and positive regulation of transcription by RNA polymerase II. Predicted to be active in extracellular space. Is expressed in several structures, including central nervous system; ileum; interphalangeal joint; liver; and male reproductive gland or organ. Human ortholog(s) of this gene implicated in hereditary hemorrhagic telangiectasia. Orthologous to human GDF2 (growth differentiation factor 2). PHENOTYPE: Homozygotes for a null allele show arteriovenous malformations, skeletal anomalies, and abnormal retinal vasculature after anti-BMP10-antibody treatment. Homozygotes for a different null allele show abnormal retinal and tracheal vasculature and tracheal lymphatic vessels after anti-BMP10 treatment. [provided by MGI curators] |