OMIA 002163-9544 : Cone dystrophy 4, PDE6C-related in Macaca mulatta
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PDE6C||phosphodiesterase 6C||Macaca mulatta||9||NC_041762.1 (93774622..93825046)||PDE6C||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Cone dystrophy 4, PDE6C-related||PDE6C||missense||Mmul_8.0.1||9||p.R565Q||2019||30667376|
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.
|2019||Moshiri, A., Chen, R., Kim, S., Harris, R.A., Li, Y., Raveendran, M., Davis, S., Liang, Q., Pomerantz, O., Wang, J., Garzel, L., Cameron, A., Yiu, G., Stout, J.T., Huang, Y., Murphy, C.J., Roberts, J., Gopalakrishna, K.N., Boyd, K., Artemyev, N.O., Rogers, J., Thomasy, S.M. :|
|A nonhuman primate model of inherited retinal disease. J Clin Invest 129:863-874, 2019. Pubmed reference: 30667376. DOI: 10.1172/JCI123980.|
|Uyhazi, K.E., Bennett, J. :|
|Blinded by the light: a nonhuman primate model of achromatopsia. J Clin Invest 129:513-515, 2019. Pubmed reference: 30667378. DOI: 10.1172/JCI126205.|
- Created by Frank Nicholas on 05 Feb 2019
- Changed by Frank Nicholas on 05 Feb 2019