OMIA 000438-9823 : Haemophilia B in Sus scrofa
In other species: dog , domestic cat , horse Possibly relevant human trait(s) and/or gene(s) (MIM number): 306900 Mendelian trait/disorder: yes Mode of inheritance: X-linked recessive Considered a defect: yes Key variant known: no Cross-species summary: Also called factor IX deficiency or Christmas disease. This is one of the two X-linked bleeding disorders, haemophilia A being the other. The fact that these two disorders are X-linked in all species reported to date provides strong support for Ohno's suggestion that the X chromosome has been highly conserved throughout evolution. Species-specific description: The affected animals reported here are genetically modified organisms (GMO). Molecular basis: Chen et al. (2020) "generated a porcine model of hemophilia B using a combination of CRISPR/Cas9 and somatic cell nuclear transfer". Control: Chen et al. (2020) "tested the possibility of hemophilia B therapy by gene insertion" in their GMO affected pigs. The authors reported that "In contrast to the hemophilia B pigs, which showed a severe bleeding tendency and joint damage, the transgenic pigs carrying human coagulation factor IX exhibited a partial improvement of bleeding. In summary, this study not only offers a translational hemophilia B model for exploring the pathological process of hemophilic arthropathy but also provides a possibility for the permanent correction of hemophilia in the future by genome editing in situ."
|2020||Chen, J., An, B., Yu, B., Peng, X., Yuan, H., Yang, Q., Chen, X., Yu, T., Wang, L., Zhang, X., Wang, H., Zou, X., Pang, D., Ouyang, H., Tang, X. :|
|CRISPR/Cas9-mediated knockin of human factor IX into swine factor IX locus effectively alleviates bleeding in hemophilia B pigs. Haematologica :, 2020. Pubmed reference: 31974191. DOI: 10.3324/haematol.2019.224063.|
- Created by Frank Nicholas on 26 Jan 2020
- Changed by Frank Nicholas on 26 Jan 2020