OMIA:002163-9544 : Cone dystrophy 4, PDE6C-related in Macaca mulatta (Rhesus monkey)

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613093 (trait) , 600827 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

Molecular basis: Moshiri et al. (2019) "identified 4 related [non-human primates; rhesus macaques] NHPs at the California National Primate Research Center with visual impairment and findings from clinical ophthalmic examination, advanced retinal imaging, and electrophysiology consistent with achromatopsia. Genetic sequencing [of 43 comparative functional candidate genes] confirmed a homozygous R565Q missense mutation in the catalytic domain of PDE6C, a cone-specific phototransduction enzyme associated with achromatopsia in humans. Biochemical studies demonstrate that the mutant mRNA is translated into a stable protein that displays normal cellular localization but is unable to hydrolyze cyclic GMP (cGMP)."

Associated gene:

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


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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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1022 Cone dystrophy 4, PDE6C-related PDE6C missense Naturally occurring variant Mmul_8.0.1 9 p.(R565Q) 2019 30667376

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2019). OMIA:002163-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2023 Moshiri, A., Issa, T., Rogers, J., Chen, R., Thomasy, S., Stout, T. :
Contributed Session III: AAV-mediated gene therapy for PDE6C achromatopsia: Progress and challenges. J Vis 23:81, 2023. Pubmed reference: 38109567. DOI: 10.1167/jov.23.15.81.
Salpeter, E.M., Moshiri, A., Ferneding, M., Motta, M.J., Park, S., Skouritakis, C., Thomasy, S.M. :
Chromatic pupillometry as a putative screening tool for heritable retinal disease in rhesus macaques. Transl Vis Sci Technol 12:13, 2023. Pubmed reference: 38752621. DOI: 10.1167/tvst.12.6.13.
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.

Edit History

  • Created by Frank Nicholas on 05 Feb 2019
  • Changed by Frank Nicholas on 05 Feb 2019