OMIA:001314-9615 : Rod-cone dysplasia 3 in Canis lupus familiaris |
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613810 (trait) , 180071 (gene)
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: 1999
Cross-species summary: This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012)
Species-specific symbol: rcd3
History: The first report of this disorder was by Keep (1972).
Mapping: The first step in the investigation of Petersen-Jones et al. (1999) was to show that the canine PDE6A gene co-segregates with the disorder.
Molecular basis: By mapping, cloning and sequencing a very likely comparative candidate gene (based on information concerning closely related genes associated with similar disorders in humans and dogs), Petersen-Jones et al. (1999) showed that the molecular basis of this particular type of progressive retinal atrophy is the deletion of a single base in codon 616 of the gene for the alpha subunit of cyclic guanosine monophosphate (cGMP) phosphodiesterase (PDE6A), which is "predicted to lead to a frame shift resulting in a string of 28 altered codons followed by a premature stop codon".
Breed: Cardigan Welsh Corgi.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PDE6A | phosphodiesterase 6A, cGMP-specific, rod, alpha | Canis lupus familiaris | 4 | NC_051808.1 (59584148..59644927) | PDE6A | Homologene, Ensembl , NCBI gene |
Variants
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.
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 475 | Cardigan Welsh Corgi | Rod-cone dysplasia 3 | PDE6A | deletion, small (<=20) | Naturally occurring variant | CanFam3.1 | 4 | g.59145362del | c.1847del | p.(N616Tfs*29) | NM_001003073.1; NP_001003073.1; published as c.1940delA (based on GenBank Z68340) | 1999 | 10393029 | Genomic coordinates in CanFam3.1 provided by Robert Kuhn |
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.
| 2017 | Mowat, F.M., Occelli, L.M., Bartoe, J.T., Gervais, K.J., Bruewer, A.R., Querubin, J., Dinculescu, A., Boye, S.L., Hauswirth, W.W., Petersen-Jones, S.M. : |
| Gene therapy in a large animal model of PDE6A-retinitis pigmentosa. Front Neurosci 11:342, 2017. Pubmed reference: 28676737 . DOI: 10.3389/fnins.2017.00342. | |
| 2012 | Miyadera, K., Acland, G.M., Aguirre, G.D. : |
| Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099 . DOI: 10.1007/s00335-011-9361-3. | |
| 2009 | Tuntivanich, N., Pittler, SJ., Fischer, AJ., Omar, G., Kiupel, M., Weber, AJ., Yao, S., Steibel, JP., Wali Khan, N., Petersen-Jones, S. : |
| Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation. Invest Ophthalmol Vis Sci 50:801-813, 2009. Pubmed reference: 18775863 . DOI: 10.1167/iovs.08-2562. | |
| 2000 | Petersen-Jones, S.M., Zhu, F.X. : |
| Development and use of a polymerase chain reaction-based diagnostic test for the causal mutation of progressive retinal atrophy in Cardigan Welsh Corgis American Journal of Veterinary Research 61:844-846, 2000. Pubmed reference: 10895911 . | |
| 1999 | Petersen-Jones, S.M., Entz, D.D., Sargan, D.R. : |
| CGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog Investigative Ophthalmology & Visual Science 40:1637-1644, 1999. Pubmed reference: 10393029 . | |
| 1972 | Keep, J.M. : |
| Clinical aspects of progressive retinal atrophy in the Cardigan Welsh Corgi Australian Veterinary Journal 48:197-199, 1972. Pubmed reference: 5082485 . |
Edit History
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 14 Sep 2011
- Changed by Frank Nicholas on 29 Nov 2011
- Changed by Frank Nicholas on 02 Dec 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 15 Sep 2012
- Changed by Frank Nicholas on 21 May 2013