OMIA:002544-9823 : GAPO syndrome in Sus scrofa (pig)
Categories: Skeleton phene (incl. short stature & teeth)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Year key variant first reported: 2022
Species-specific name: This phene was created by CRISPR/Cas9 genome editing, i.e. affected pigs are genetically-modified organisms (GMO)
Species-specific description: Chen et al. (2022): "the role of ANTXR1 as a receptor for SVA [Senecavirus A (SVA), the cause of vesicular disease] in pigs was investigated by CRISPR/Cas9 genome editing. Strikingly, ANTXR1 knockout (KO) pigs exhibited features consistent with the rare disease, GAPO syndrome, in humans. ... During an SVA challenge, clinical symptoms, including vesicular lesions, and circulating viremia were present in infected WT pigs but were absent in KO pigs. Additional ANTXR1-edited piglets were generated that were homozygous for an in-frame (IF) mutation. While IF pigs presented a GAPO phenotype similar to the KO pigs, ... and circulating SVA nucleic acid was decreased in IF compared to WT pigs. Thus, this new ANTXR1 mutation resulted in decreased permissiveness of SVA in pigs."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ANTXR1||anthrax toxin receptor 1||Sus scrofa||3||NC_010445.4 (73398379..73157744)||ANTXR1||Homologene, Ensembl , NCBI gene|
Cite this entry
|2022||Chen, P.R., Rowland, R.R.R., Stoian, A.M., Petrovan, V., Sheahan, M., Ganta, C., Cino-Ozuna, G., Kim, D.Y., Dunleavey, J.M., Whitworth, K.M., Samuel, M.S., Spate, L.D., Cecil, R.F., Benne, J.A., Yan, X., Fang, Y., Croix, B.S., Lechtenberg, K., Wells, K.D., Prather, R.S. :|
|Disruption of anthrax toxin receptor 1 in pigs leads to a rare disease phenotype and protection from senecavirus A infection. Sci Rep 12:5009, 2022. Pubmed reference: 35322150 . DOI: 10.1038/s41598-022-09123-x.|
- Created by Frank Nicholas on 26 Mar 2022
- Changed by Imke Tammen2 on 11 Sep 2022