Primary Identifier | MGI:99906 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 21846 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable transmembrane receptor protein tyrosine kinase activity. Involved in circulatory system development; response to retinoic acid; and tissue remodeling. Acts upstream of or within several processes, including negative regulation of angiogenesis; plasma membrane fusion; and vasculature development. Located in plasma membrane. Is expressed in several structures, including cardiovascular system; central nervous system; extraembryonic component; genitourinary system; and immune system. Human ortholog(s) of this gene implicated in hereditary lymphedema. Orthologous to human TIE1 (tyrosine kinase with immunoglobulin like and EGF like domains 1). PHENOTYPE: Homozygous mutation of this gene results in embryonic or neonatal lethality, hemorrhages, edema, increased vascular branching, and abnormal vascular endothelial cell development. Mice homozygous for a hypomorphic allele exhibit dilated and disorganized lymphatic vessel, edema, and hemorrhage. [provided by MGI curators] |