OMIA 001916-9823 : Familial adenomatous polyposis in Sus scrofa

In other species: dog

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 175100 (trait) , 611731 (gene)

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

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.
2021 Tanihara, F., Hirata, M., Otoi, T. :
Current status of the application of gene editing in pigs. J Reprod Dev 67:177-187, 2021. Pubmed reference: 33840678. DOI: 10.1262/jrd.2021-025.
2020 Sikorska, A., Stachowiak, M., Flisikowska, T., Stachecka, J., Flisikowski, K., Switonski, M. :
Polymorphisms of CSF1R and WISP1 genes are associated with severity of familial adenomatous polyposis in APC1311 pigs. Gene 759:144988, 2020. Pubmed reference: 32717306. DOI: 10.1016/j.gene.2020.144988.
2013 Tan, W., Carlson, D.F., Lancto, C.A., Garbe, J.R., Webster, D.A., Hackett, P.B., Fahrenkrug, S.C. :
Efficient nonmeiotic allele introgression in livestock using custom endonucleases. Proc Natl Acad Sci U S A 110:16526-31, 2013. Pubmed reference: 24014591. DOI: 10.1073/pnas.1310478110.
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
  • Changed by Imke Tammen2 on 26 Dec 2021