OMIA:000438-9823 : Haemophilia B in Sus scrofa (pig)
Categories: Haematopoietic system phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: X-linked recessive
Considered a defect: yes
Key variant known: no
Cross-species summary: Also called hemophilia B, 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".
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
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."
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2021||Tanihara, F., Hirata, M., Otoi, T. :|
|Current status of the application of gene editing in pigs. J Reprod Dev 67:177-187, 2021. Pubmed reference: 33840678. DOI: 10.1262/jrd.2021-025.|
|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
- Changed by Imke Tammen2 on 26 Dec 2021
- Changed by Imke Tammen2 on 10 Dec 2023