Primary Identifier | MGI:1335098 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 319583 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATP binding activity and DNA ligase (ATP) activity. Involved in double-strand break repair via nonhomologous end joining. Acts upstream of or within several processes, including DNA metabolic process; hemopoiesis; and response to gamma radiation. Part of DNA-dependent protein kinase-DNA ligase 4 complex. Is expressed in liver and metanephros. Used to study DNA ligase IV deficiency. Human ortholog(s) of this gene implicated in several diseases, including DNA ligase IV deficiency; colorectal cancer; multiple myeloma; pancreatic cancer; and prostate cancer. Orthologous to human LIG4 (DNA ligase 4). PHENOTYPE: Null homozygotes die late in gestation with extensive CNS apoptosis, blocked lymphopoeiesis and failure of V(D)J joining. Carrier fibroblasts show elevated chromosome breaks. ~40% of homozygous hypomorphs survive, with retarded growth, reduced PBL and progressive loss of hematopoietic stem cells. [provided by MGI curators] |