Primary Identifier | MGI:1095407 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 12168 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables BMP binding activity and BMP receptor activity. Involved in several processes, including BMP signaling pathway; circulatory system development; and negative regulation of cell proliferation involved in heart valve morphogenesis. Acts upstream of or within several processes, including limb development; maternal placenta development; and mesoderm formation. Located in cell surface and postsynaptic density. Is active in several cellular components, including cell body; clathrin-coated pit; and dendrite. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; embryo ectoderm; and genitourinary system. Used to study primary pulmonary hypertension. Human ortholog(s) of this gene implicated in heart septal defect; primary pulmonary hypertension; pulmonary hypertension; and pulmonary venoocclusive disease 1. Orthologous to human BMPR2 (bone morphogenetic protein receptor type 2). PHENOTYPE: Homozygous null mutants arrest at the egg cylinder stage and die before embryonic day 9.5 with failure to form organized structure and lacking mesoderm. [provided by MGI curators] |