Primary Identifier | MGI:1889818 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 269831 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in cell surface receptor signaling pathway; regulation of angiogenesis; and retina layer formation. Acts upstream of or within Norrin signaling pathway and maintenance of blood-brain barrier. Located in plasma membrane. Is expressed in cerebral cortex ventricular layer and genitourinary system. Used to study exudative vitreoretinopathy. Human ortholog(s) of this gene implicated in exudative vitreoretinopathy 5. Orthologous to human TSPAN12 (tetraspanin 12). PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal retinal vasculature with pericapillary occlusions, lack of vertical sprouts, gliosis, fenestration, microanurysms, hemorrhage, and delayed regression of hyaloid capillaries. [provided by MGI curators] |