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OMIA:002372-9544 : Haemoglobinuria, paroxysmal nocturnal in Macaca mulatta (Rhesus monkey)

Categories: Haematopoietic system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 300818 (trait) , 311770 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Hemoglobinuria, paroxysmal nocturnal

Species-specific description: Paroxysmal nocturnal hemoglobinuria is a clonal hematopoietic disorder linked to acquired somatic loss-of-function mutations in hematopoietic stem and progenitor cells (HSPCs) inactivating the X-linked PIG-A gene (Shin et al., 2019). Shin et al. (2019) "used CRISPR/Cas9 gene editing of RM [rhesus monkey] HSPCs to create loss-of-function insertions/deletions (indels) in the PIG-A gene, followed by autologous transplantation and long-term follow-up." (genetically modified model - 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
PIGA phosphatidylinositol glycan anchor biosynthesis class A Macaca mulatta X NC_041774.1 (15016437..15000619) PIGA Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002372-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

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 Chen, Y., Rong, F. :
Advances in the creation of animal models of paroxysmal nocturnal hemoglobinuria. Hematology 26:491-496, 2021. Pubmed reference: 34238137. DOI: 10.1080/16078454.2021.1945244.
2019 Shin, T.H., Baek, E.J., Corat, M.A.F., Chen, S., Metais, J.Y., AlJanahi, A.A., Zhou, Y., Donahue, R.E., Yu, K.R., Dunbar, C.E. :
CRISPR/Cas9 PIG-A gene editing in nonhuman primate model demonstrates no intrinsic clonal expansion of PNH HSPCs. Blood 133:2542-2545, 2019. Pubmed reference: 31003997. DOI: 10.1182/blood.2019000800.

Edit History


  • Created by Imke Tammen2 on 08 Aug 2021
  • Changed by Imke Tammen2 on 08 Aug 2021
  • Changed by Imke Tammen2 on 18 Dec 2023