Primary Identifier | MGI:1353654 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 30930 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within retrograde transport, endosome to Golgi. Located in early endosome. Part of retromer complex. Is expressed in several structures, including egg cylinder; embryo ectoderm; gut; inner cell mass; and ovary. Human ortholog(s) of this gene implicated in diabetic retinopathy and type 2 diabetes mellitus. Orthologous to human VPS26A (VPS26 retromer complex component A). PHENOTYPE: Homozygotes for a null mutation induced by transgene insertion exhibit retarded growth of the embryonic ectoderm beginning at embryonic day 7.5 and often, defects of the amnion and chorion. Mutant embryos arrest about day 9.5. [provided by MGI curators] |