| Primary Identifier | MGI:96067 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 15194 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables diazepam binding activity. Involved in several processes, including postsynapse to nucleus signaling pathway; regulation of neuron apoptotic process; and regulation of protein localization to nucleus. Acts upstream of or within several processes, including carboxylic acid metabolic process; positive regulation of cilium assembly; and transport along microtubule. Located in several cellular components, including centriole; inclusion body; and perinuclear region of cytoplasm. Is active in glutamatergic synapse. Is expressed in several structures, including central nervous system; olfactory epithelium; peripheral nervous system; retina; and testis. Used to study Huntington's disease. Human ortholog(s) of this gene implicated in Huntington's disease and Parkinson's disease. Orthologous to human HTT (huntingtin). PHENOTYPE: Homozygous knockout mutant embryos gastrulate abnormally and die in utero. Conditional mutant mice are small with progressive neurodegeneration. Knock-in mice carrying 20-150 CAG repeat units variably mimic Huntington disease with late-onset motor defects, reactive gliosis and neuronal inclusions. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
