Primary Identifier | MGI:107471 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 18132 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables Notch binding activity. Involved in branching involved in blood vessel morphogenesis and negative regulation of endothelial cell differentiation. Acts upstream of or within several processes, including negative regulation of Notch signaling pathway; positive regulation of angiogenesis; and positive regulation of aorta morphogenesis. Located in cytoplasmic vesicle and endoplasmic reticulum. Is expressed in several structures, including brain; cardiovascular system; early conceptus; genitourinary system; and gut. Used to study arteriovenous malformations of the brain. Human ortholog(s) of this gene implicated in autoimmune disease (multiple); dementia; ductal carcinoma in situ; schizophrenia; and systemic scleroderma. Orthologous to human NOTCH4 (notch receptor 4). PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile but exhibit a slight delay in postnatal retinal angiogenesis. [provided by MGI curators] |