Primary Identifier | MGI:2387801 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 266781 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable low-density lipoprotein particle receptor binding activity and phosphatidylinositol binding activity. Acts upstream of or within circulatory system development; kidney development; and receptor-mediated endocytosis. Located in endosome. Is expressed in cerebral cortex ventricular layer and cortical plate. Orthologous to human SNX17 (sorting nexin 17). PHENOTYPE: Mice homozygous for an ENU_induced mutation exhibit double outlet right ventricle (DORV)/overriding aorta (Ao) and atrioventricular septal defect (AVSD). Noncardiac phenotypes include anopthalmia and duplex kidneys. [provided by MGI curators] |