OMIA:002784-9823 : Spinal muscular atrophy, SMN1-related in Sus scrofa (pig)
Possibly relevant human trait(s) and/or gene(s) (MIM number): 600354 (gene)
Links to MONDO diseases: No links.
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).
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
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, 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.|
- Created by Imke Tammen2 on 05 Oct 2023
- Changed by Imke Tammen2 on 10 Dec 2023