| Primary Identifier | MGI:1333889 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 12236 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein kinase activity. Acts upstream of or within metaphase/anaphase transition of mitotic cell cycle and protein localization to chromosome, centromeric region. Located in kinetochore. Part of outer kinetochore. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study mosaic variegated aneuploidy syndrome 1. Human ortholog(s) of this gene implicated in colorectal cancer and mosaic variegated aneuploidy syndrome 1. Orthologous to human BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B). PHENOTYPE: Homozygous mutant embryos undergo extensive apoptosis and die during early gestation. Heterozygous mice are viable and exhibit splenomegaly, abnormal megakaryopoiesis, and an increased susceptibility to intestinal tumorigenesis. Hypomorphic homozygotes display infertility and premature aging. [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
