OMIA 001929-9823 : Cone-rod dystrophy 6 in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 601777

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific symbol: CORD6

Species-specific description: Genetically-modifed organism; GMO

Molecular basis: Kostic et al. (2013) used lentiviral transgenesis to create pigs with a deleterious mutation in the GUCU2D gene, known to cause cone-rod dystrophy 6 (CORD6) in humans (see OMIM link above). These transgenic pigs show promise as a large-animal model of an important human disease.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GUCY2D Sus scrofa - no genomic information (-..-) GUCY2D Ensembl

Reference


2013 Kostic, C., Lillico, S.G., Crippa, S.V., Grandchamp, N., Pilet, H., Philippe, S., Lu, Z., King, T.J., Mallet, J., Sarkis, C., Arsenijevic, Y., Whitelaw, C.B. :
Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy. PLoS One 8:e71363, 2013. Pubmed reference: 23977029. DOI: 10.1371/journal.pone.0071363.

Edit History


  • Created by Frank Nicholas on 10 Sep 2014
  • Changed by Frank Nicholas on 10 Sep 2014
  • Changed by Frank Nicholas on 29 Sep 2016