Primary Identifier | MGI:1100510 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 12235 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable histone H2A kinase activity and protein serine/threonine kinase activity. Acts upstream of or within chromosome segregation and positive regulation of intrinsic apoptotic signaling pathway. Located in kinetochore. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in colorectal cancer and primary autosomal recessive microcephaly. Orthologous to human BUB1 (BUB1 mitotic checkpoint serine/threonine kinase). PHENOTYPE: Mice homozygous for a null mutation exhibit embryonic lethality prior to implantation. Mice homozygous for a kinase dead allele exhibit aneuploidy in somatic and germ cells and reduced male fertility. [provided by MGI curators] |