OMIA 001916-9823 : Familial adenomatous polyposis in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 175100

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: Genetically-modifed organism; GMO. This entry refers to "transgenic" pigs and is therefore not included in the list of traits for which likely causal variants are known

Molecular basis: By gene targeting, Flisikowska et al. (2012) created pigs with this disorder due to translational stop signals at codons 1061 and 1311 in the APC gene orthologous to causal mutations for the same disorder in humans.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
APC adenomatous polyposis coli Sus scrofa 2 NC_010444.4 (116985303..116913354) APC Homologene, Ensembl, NCBI gene

Reference


2012 Flisikowska, T., Merkl, C., Landmann, M., Eser, S., Rezaei, N., Cui, X., Kurome, M., Zakhartchenko, V., Kessler, B., Wieland, H., Rottmann, O., Schmid, R.M., Schneider, G., Kind, A., Wolf, E., Saur, D., Schnieke, A. :
A porcine model of familial adenomatous polyposis. Gastroenterology 143:1173-5.e1-7, 2012. Pubmed reference: 22864254. DOI: 10.1053/j.gastro.2012.07.110.

Edit History


  • Created by Frank Nicholas on 31 Mar 2014
  • Changed by Frank Nicholas on 31 Mar 2014
  • Changed by Frank Nicholas on 31 Mar 2016
  • Changed by Frank Nicholas on 08 Aug 2017