Primary Identifier | MGI:88451 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 12822 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within several processes, including endothelial cell morphogenesis; positive regulation of endothelial cell apoptotic process; and positive regulation of vascular endothelial cell proliferation. Located in basement membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Used to study pigment dispersion syndrome. Human ortholog(s) of this gene implicated in primary angle-closure glaucoma. Orthologous to human COL18A1 (collagen type XVIII alpha 1 chain). PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli. [provided by MGI curators] |