Primary Identifier | MGI:2447658 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 244667 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity and molecular adaptor activity. Involved in several processes, including nervous system development; positive regulation of neuroblast proliferation; and regulation of synapse organization. Acts upstream of or within several processes, including detection of temperature stimulus involved in sensory perception of pain; non-motile cilium assembly; and positive regulation of ubiquitin-dependent protein catabolic process. Located in microtubule organizing center; postsynaptic density; and synaptic vesicle. Is active in glutamatergic synapse. Is expressed in several structures, including brain; heart; liver; lung; and muscle tissue. Used to study melancholic depression and schizophrenia. Human ortholog(s) of this gene implicated in autism spectrum disorder (multiple); bipolar disorder; chronic fatigue syndrome; major depressive disorder; and psychotic disorder (multiple). Orthologous to human DISC1 (DISC1 scaffold protein). PHENOTYPE: Homozygotes for a null allele show altered anxiety, synaptic depression, LTP, impulsivity, social investigation, hyperactivity and prepulse inhibition. Homozygotes for a spontaneous allele show altered working memory. Different ENU mutations cause distinct depression and schizophrenia-like profiles. [provided by MGI curators] |