OMIA:003043-9823 : Fanconi anaemia, FANCA-related in Sus scrofa (pig) |
Categories: Skeleton phene (incl. short stature & teeth) , Haematopoietic system phene , Cellular phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 227650 (trait) , 607139 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2025
Species summary: Hergert et al. (2025) used CRISPR/CAS9 technology to edit exon 4 of the FANCA gene in pigs as a model of Fanconi anemia in humans. This study involves gene edited or genetically modified organisms (GMO).
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| FANCA | FA complementation group A | Sus scrofa | 6 | NC_010448.4 (253207..300159) | FANCA | Ensembl, NCBI gene |
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003043-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Hergert, B., Whitworth, K.M., Goldman, D.C., Moreau, L., McQueen, K., Parmar, K., D'Andrea, A., Samuel, M.S., Wells, K.D., Prather, R.S., Dorell, C., Grompe, M., Fleming, W.H. : |
| A porcine model of Fanconi anemia. PLoS One 20:e0335854, 2025. Pubmed reference: 41171815. DOI: 10.1371/journal.pone.0335854. |
Edit History
- Created by Imke Tammen2 on 18 Feb 2026