Primary Identifier | MGI:99137 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 22594 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Contributes to 3' overhang single-stranded DNA endodeoxyribonuclease activity. Involved in several processes, including DNA metabolic process; regulation of DNA metabolic process; and voluntary musculoskeletal movement. Acts upstream of or within DNA repair and hippocampus development. Located in chromosome, telomeric region. Part of ERCC4-ERCC1 complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); carcinoma (multiple); central nervous system cancer (multiple); gastrointestinal system cancer (multiple); and hematologic cancer (multiple). Orthologous to human XRCC1 (X-ray repair cross complementing 1). PHENOTYPE: Homozygous null mutants accumulate unrepaired DNA strand breaks in the egg cylinder, show increased cell death in epiblast, developmental arrest at embryonic day 6.5, morphological anomalies in visceral embryonic endoderm by day 7.5 and die by day 8.5. [provided by MGI curators] |