Primary Identifier | MGI:98725 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 21803 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein serine/threonine kinase activator activity and transforming growth factor beta receptor binding activity. Involved in several processes, including circulatory system development; positive regulation of leukocyte differentiation; and regulation of cytokine production. Acts upstream of or within several processes, including branching involved in mammary gland duct morphogenesis; leukocyte differentiation; and regulation of protein localization to nucleus. Located in cytoplasm; extracellular matrix; and extracellular space. Is expressed in several structures, including alimentary system; embryo mesenchyme; genitourinary system; heart; and skin. Used to study Sjogren's syndrome. Human ortholog(s) of this gene implicated in several diseases, including Behcet's disease; artery disease (multiple); bone disease (multiple); carcinoma (multiple); and lung disease (multiple). Orthologous to human TGFB1 (transforming growth factor beta 1). PHENOTYPE: Many homozygous null mutants die in utero by day 10.5 from yolk sac vasculature and hemopoietic defects. Survivors die by 5 weeks with wasting syndrome, excess inflammatory response and tissue necrosis. On BALB/c, mice develop necroinflammatory hepatitis. [provided by MGI curators] |