| Primary Identifier | MGI:2441769 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 227525 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable 5'-3' DNA exonuclease activity; damaged DNA binding activity; and single-stranded DNA endodeoxyribonuclease activity. Acts upstream of or within B cell differentiation; DNA metabolic process; and response to ionizing radiation. Predicted to be located in Golgi apparatus and nucleoplasm. Predicted to be part of nonhomologous end joining complex. Used to study severe combined immunodeficiency with sensitivity to ionizing radiation. Human ortholog(s) of this gene implicated in Omenn syndrome; common variable immunodeficiency; severe combined immunodeficiency; and severe combined immunodeficiency with sensitivity to ionizing radiation. Orthologous to human DCLRE1C (DNA cross-link repair 1C). PHENOTYPE: Homozygous mutant mice exhibit a combined immunodeficiency phenotype. While immunoglobulin rearrangement is completely blocked in B cells, the block of V(D)J rearrangement in T cells is partial. [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
