Primary Identifier | MGI:88180 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 12159 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables heparin binding activity. Involved in several processes, including bone development; circulatory system development; and positive regulation of cell differentiation. Acts upstream of with a positive effect on positive regulation of protein localization to nucleus. Acts upstream of or within several processes, including embryonic morphogenesis; morphogenesis of a branching epithelium; and nervous system development. Located in extracellular space. Is expressed in several structures, including alimentary system; embryo ectoderm; embryo mesenchyme; genitourinary system; and sensory organ. Used to study Axenfeld-Rieger syndrome type 3; atrioventricular septal defect; cleft palate-lateral synechia syndrome; fibrodysplasia ossificans progressiva; and urinary system disease. Human ortholog(s) of this gene implicated in several diseases, including CAKUT (multiple); cleft lip; orofacial cleft 11; ossification of the posterior longitudinal ligament of spine; and syndromic microphthalmia 6. Orthologous to human BMP4 (bone morphogenetic protein 4). PHENOTYPE: Targeted mutants have wide ranging effects, including embryonic lethality, aberrant mesoderm differentation, developmental retardation and disorganized posterior structures; heterozygous null mutants display anomalies of the kidney and urinary tract; other targeted mutants display failure of lens induction and lack primordial germ cells. [provided by MGI curators] |