| Primary Identifier | MGI:104537 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 12189 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables DNA-binding transcription activator activity; damaged DNA binding activity; and transcription cis-regulatory region binding activity. Involved in double-strand break repair and positive regulation of transcription by RNA polymerase II. Acts upstream of with a positive effect on negative regulation of gene expression via CpG island methylation. Acts upstream of or within several processes, including centrosome cycle; mitotic G2/M transition checkpoint; and random inactivation of X chromosome. Located in chromosome; cytoplasm; and male germ cell nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and integumental system. Used to study breast cancer; hereditary breast ovarian cancer syndrome; and ovarian cancer. Human ortholog(s) of this gene implicated in several diseases, including breast cancer (multiple); cervix uteri carcinoma in situ; gastrointestinal system cancer (multiple); hereditary breast ovarian cancer syndrome; and reproductive organ cancer (multiple). Orthologous to human BRCA1 (BRCA1 DNA repair associated). PHENOTYPE: Homozygous null mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA1 protein survive, have a kinky tail, pigmentation anomalies, male infertility and increased tumor incidence. [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
