| Primary Identifier | MGI:1341823 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 14087 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Acts upstream of or within several processes, including gonad development; regulation of CD40 signaling pathway; and regulation of regulatory T cell differentiation. Predicted to be located in nucleoplasm. Predicted to be part of Fanconi anaemia nuclear complex and chromatin. Is expressed in several structures, including brain; gut; liver; reproductive system; and spleen. Used to study Fanconi anemia complementation group A. Human ortholog(s) of this gene implicated in several diseases, including Fanconi anemia (multiple); acute myeloid leukemia; esophagus squamous cell carcinoma; ovarian disease (multiple); and skin melanoma. Orthologous to human FANCA (FA complementation group A). PHENOTYPE: Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. [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
