| Primary Identifier | MGI:1333799 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 108138 |
| 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 double-strand break repair via nonhomologous end joining; negative regulation of protection from non-homologous end joining at telomere; and telomeric DNA-containing double minutes formation. Acts upstream of or within several processes, including DNA metabolic process; hemopoiesis; and response to X-ray. Located in chromosome, telomeric region. Part of DNA-dependent protein kinase-DNA ligase 4 complex and ERCC4-ERCC1 complex. Is expressed in head; heart; and trunk. Human ortholog(s) of this gene implicated in multiple myeloma; salivary gland adenoid cystic carcinoma; and salivary gland carcinoma. Orthologous to human XRCC4 (X-ray repair cross complementing 4). PHENOTYPE: Homozygous null mutants have massive neuronal apoptosis, growth retardation, hypoplastic thymus and die by embryonic day 17.5. Lethality is rescued by Trp53 deficiency, but double knockout mice die from pro-B-cell lymphomas with Myc-Igh translocations. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
