| Primary Identifier | MGI:1928394 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 56717 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables protein serine/threonine kinase activity and ribosome binding activity. Involved in several processes, including 'de novo' pyrimidine nucleobase biosynthetic process; T-helper 1 cell lineage commitment; and neuronal action potential. Acts upstream of or within several processes, including heart development; positive regulation of cellular component biogenesis; and regulation of nervous system development. Located in cytosol; dendrite; and nucleus. Part of TORC1 complex. Colocalizes with PML body. Is expressed in several structures, including central nervous system; early conceptus; oocyte; respiratory system; and retina. Human ortholog(s) of this gene implicated in autosomal dominant polycystic kidney disease; kidney angiomyolipoma; lung disease (multiple); prostate cancer; and type 2 diabetes mellitus. Orthologous to human MTOR (mechanistic target of rapamycin kinase). PHENOTYPE: Mice homozygous for targeted, gene trap and ENU-induced null alleles exhibit embryonic lethality by E12.5 with abnormal embryogenesis. Mice homozygous for the ENU mutation further exhibit abnormal brain development. [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
