OMIA:002784-9823 : Spinal muscular atrophy, SMN1-related in Sus scrofa (pig)

Categories: Nervous system phene , Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600354 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: Duque et al. (2015): "Using intrathecal delivery of scAAV9 expressing an shRNA targeting pig SMN1, SMN was knocked down in motoneurons postnatally to SMA [spinal muscular atrophy] levels. This resulted in an SMA phenotype representing the first large animal model of SMA." This study involves 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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002784-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2023 Signoria, I., van der Pol, W.L., Groen, E.J.N. :
Innovating spinal muscular atrophy models in the therapeutic era. Dis Model Mech 16:dmm050352, 2023. Pubmed reference: 37787662. DOI: 10.1242/dmm.050352.
2015 Duque, S.I., Arnold, W.D., Odermatt, P., Li, X., Porensky, P.N., Schmelzer, L., Meyer, K., Kolb, S.J., Schümperli, D., Kaspar, B.K., Burghes, A.H. :
A large animal model of spinal muscular atrophy and correction of phenotype. Ann Neurol 77:399-414, 2015. Pubmed reference: 25516063. DOI: 10.1002/ana.24332.

Edit History

  • Created by Imke Tammen2 on 05 Oct 2023
  • Changed by Imke Tammen2 on 10 Dec 2023