OMIA:002163-9544 : Cone dystrophy 4, PDE6C-related in Macaca mulatta (Rhesus monkey)
Categories: Vision / eye phene
Links to MONDO diseases:
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)."
Have human generated variants been created, e.g. through genetic engineering and gene editing
|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||Inferred EVA rsID||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
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