Primary Identifier | MGI:2677270 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 107368 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable lipid binding activity and metal ion binding activity. Involved in mitochondrial calcium ion homeostasis and mitochondrion-endoplasmic reticulum membrane tethering. Located in endoplasmic reticulum membrane and mitochondria-associated endoplasmic reticulum membrane contact site. Is expressed in several structures, including central nervous system; genitourinary system; gut; hemolymphoid system; and retina nuclear layer. Orthologous to human PDZD8 (PDZ domain containing 8). PHENOTYPE: Mice homozygous for a null allele exhibit preweaning lethality, decreased body weight, reduced brain volume, altered brain structures, increased vertical stereotypic behavior, decreased anxiety-related response, reduced long term spatial reference memory, reduced long term potentiation, and decreased paired-pulse facilitation [provided by MGI curators] |