Primary Identifier | MGI:1890467 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 65114 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables D1 dopamine receptor binding activity. Involved in several processes, including regulation of macromolecule metabolic process; regulation of protein localization; and regulation of synapse organization. Located in several cellular components, including neuronal cell body; perinuclear region of cytoplasm; and postsynaptic density. Part of retromer complex. Is active in several cellular components, including dopaminergic synapse; glutamatergic synapse; and postsynapse. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Used to study Parkinson's disease and Parkinson's disease 17. Human ortholog(s) of this gene implicated in Parkinson's disease and Parkinson's disease 17. Orthologous to human VPS35 (VPS35 retromer complex component). PHENOTYPE: Mice homozygous for a gene trap allele die prior to E10. Inducible KO in microglia results in reduced damage from ischemic stroke in the cortex. Heterozygosity for a Parkinson's disease associated missense mutation affects mitochondrial function in substantia nigra neurons, which leads to late onset bradykinesia and reduced locomotor activity. [provided by MGI curators] |