OMIA 000438-9823 : Haemophilia B in Sus scrofa

In other species: dog , domestic cat , horse

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 306900 (trait) , 300746 (gene)

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."


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.

Edit History

  • Created by Frank Nicholas on 26 Jan 2020
  • Changed by Frank Nicholas on 26 Jan 2020
  • Changed by Imke Tammen2 on 26 Dec 2021