Primary Identifier | MGI:2387995 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 217718 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein kinase activator activity; protein kinase binding activity; and protein serine/threonine kinase activity. Predicted to be involved in mitotic cell cycle and regulation of mitotic cell cycle. Predicted to be located in cytoplasm and nucleus. Predicted to colocalize with centrosome. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome. Orthologous to human NEK9 (NIMA related kinase 9). PHENOTYPE: Mice homozygous for a knock-out allele exhibit a small/hypocellular and hemorrhagic placenta with defects in placental labyrinth vasculature and trophoblast layer formation and complete lethality throughout fetal growth and development. A p.W972A mutation affects autophagy, leading to impaired renal tubule ciliogenesis, and tubule hypertrophy. [provided by MGI curators] |