In other species: dog , domestic cat , horse

Categories: Haematopoietic system phene

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

Links to MONDO diseases:

• MONDO:0010604: hemophilia B

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".

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

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."