| Primary Identifier | MGI:108028 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 245000 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables protein kinase activity. Involved in positive regulation of telomere maintenance via telomerase and replication fork processing. Acts upstream of or within several processes, including DNA damage checkpoint signaling; embryo implantation; and protein phosphorylation. Located in XY body and nucleus. Is active in GABA-ergic synapse and postsynapse. Is extrinsic component of synaptic vesicle membrane. Is expressed in several structures, including 2-cell stage conceptus; alimentary system; central nervous system; eye; and gonad. Used to study Seckel syndrome. Human ortholog(s) of this gene implicated in Seckel syndrome 1; adenoid cystic carcinoma; colon cancer; lung cancer; and pancreatic cancer. Orthologous to human ATR (ATR checkpoint kinase). PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice heterozygous for a knock-out allele exhibit premature death and increased tumor incidence. [provided by MGI curators] |