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OMIA:003070-9940 : Pulmonary hypertension, BMPR2-related in Ovis aries (sheep)

Categories: Respiratory system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600799 (gene) , 178600 (trait) , 265450 (trait)

Links to relevant human diseases in MONDO:

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal dominant

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2026

Species summary: Datar et al. (2026) "describe the development of an ovine model of heritable PAH [Pulmonary Arterial Hypertension]. Because homozygous disruption of BMPR2 is embryonic lethal, [the authors] developed heterozygous BMPR2 sheep by using a PAM-disrupting synonymous single stranded oligodeoxyribonucleotide alongside a single guide RNA and Cas9 mediated gene editing strategy. The resulting BMPR2(+/-) lambs demonstrated cardiac and pulmonary vascular pathology that are consistent with BMPR2 mutation-driven PAH observed in humans." This study involves gene edited or genetically modified organisms (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
BMPR2 bone morphogenetic protein receptor type 2 Ovis aries 2 NC_056055.1 (204655120..204800472) BMPR2 Ensembl, NCBI gene

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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003070-9940: 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.

2026 Datar, S.A., Werry, N., Brown, A.R., Fitzpatrick, D.S., Falade, O., Trott, J.F., Hutchings, R., Amin, E.K., Morgan, J.M., Nawaytou, H., Deutsch, G.H., Johnson, E.G., Gonzales Viera, O.A., Bishop, T.F., Beach, T.U., McNabb, B.R., Austin, E.D., Fineman, J.R., Van Eenennaam, A.L. :
A large animal model of heritable pulmonary arterial hypertension using gene-edited BMPR2 sheep. JCI Insight :e205583, 2026. Pubmed reference: 42446931. DOI: 10.1172/jci.insight.205583.
Datar, S.A., Werry, N., Brown, A.R., Fitzpatrick, D.S., Falade, O., Trott, J.F., Hutchings, R., Amin, E.K., Morgan, J.M., Nawaytou, H., Deutsch, G.H., Johnson, E.G., Gonzales Viera, O.A., Bishop, T.F., Urbano, T., McNabb, B.R., Austin, E.D., Fineman, J.R., Van Eenennaam, A.L. :
A large animal model of heritable pulmonary arterial hypertension using gene-edited BMPR2 sheep. bioRxiv :2026.02.06.704456, 2026. Pubmed reference: 41676498. DOI: 10.64898/2026.02.06.704456.

Edit History


  • Created by Imke Tammen on 26 Jul 2026
  • Changed by Imke Tammen on 26 Jul 2026