Primary Identifier | MGI:1338938 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 12166 |
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 circulatory system development; fibrous ring of heart morphogenesis; and positive regulation of cell population proliferation. Acts upstream of or within several processes, including limb morphogenesis; mesoderm morphogenesis; and regionalization. Located in cell surface. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and sensory organ. Used to study Ebstein anomaly; Wolff-Parkinson-White syndrome; chromosome 10q23 deletion syndrome; juvenile polyposis syndrome; and osteoarthritis. Human ortholog(s) of this gene implicated in hereditary mixed polyposis syndrome 2; intestinal disease; and juvenile polyposis syndrome. Orthologous to human BMPR1A (bone morphogenetic protein receptor type 1A). PHENOTYPE: Homozygous null mutants die by embryonic day 9.5, are smaller than normal, and form no mesoderm; a conditional knockout resulted in gross malformations of the limbs with complete agenesis of the hindlimb. [provided by MGI curators] |