| Primary Identifier | MGI:1351625 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 27354 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin-protein adaptor activity and damaged DNA binding activity. Involved in DNA metabolic process and blastocyst growth. Acts upstream of or within intracellular signal transduction; neuroblast proliferation; and neuromuscular process controlling balance. Located in PML body and replication fork. Part of Mre11 complex. Colocalizes with chromosome, telomeric region. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart; and respiratory system. Used to study Nijmegen breakage syndrome and T-cell acute lymphoblastic leukemia. Human ortholog(s) of this gene implicated in several diseases, including Nijmegen breakage syndrome; acute lymphoblastic leukemia; aplastic anemia; rectum cancer; and reproductive organ cancer (multiple). Orthologous to human NBN (nibrin). PHENOTYPE: Homozygous targeted mutations exhibit phenotypes ranging from impaired extraembryonic tissue growth and early embryonic death to growth retardation, lymphoid defects, lymphoma susceptibility, and failure of oogenesis. Null heterozygotes are cancer prone. [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
