OMIA:001260-9615 : Retinal atrophy - Rod-cone dysplasia 2, RD3-related in Canis lupus familiaris (dog) |
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 610612 (trait) , 180040 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2009
Cross-species summary: This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012)
Species-specific symbol: rcd2
Molecular basis: Kukekova et al. (2009) showed that rod-cone dysplasia type 2 (rcd2) in Collies is due to an insertion mutation in the canine homologue of the human RD3 gene, previously known as C1ORF36.
Breed:
Collie (Dog) (VBO_0200375).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| RD3 | retinal degeneration 3 | Canis lupus familiaris | 7 | NC_006589.3 (9875980..9875369) | RD3 | Homologene, Ensembl , NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 710 | Collie (Dog) | Rod-cone dysplasia 2 | RD3 | insertion, gross (>20) | Naturally occurring variant | 7 | "22 bp insertion changes the last 61 amino acids of the encoded protein" | 2009 | 19130129 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001260-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2023 | Ghilardi, S., Bagardi, M., Frattini, S., Barbariga, G.E., Brambilla, P.G., Minozzi, G., Polli, M. : |
| Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open 10:e77, 2023. Pubmed reference: 38028226. DOI: 10.1002/vro2.77. | |
| 2021 | Genetics Committee of the American College of Veterinary Opthalmologists : |
| The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf , 2021. | |
| 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. | |
| 2010 | Azadi, S., Molday, L.L., Molday, R.S. : |
| RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells. Proc Natl Acad Sci U S A 107:21158-63, 2010. Pubmed reference: 21078983. DOI: 10.1073/pnas.1010460107. | |
| 2009 | Kukekova, AV., Goldstein, O., Johnson, JL., Richardson, MA., Pearce-Kelling, SE., Swaroop, A., Friedman, JS., Aguirre, GD., Acland, GM. : |
| Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3. Mamm Genome 20:109-23, 2009. Pubmed reference: 19130129. DOI: 10.1007/s00335-008-9163-4. | |
| 2006 | Kukekova, AV., Nelson, J., Kuchtey, RW., Lowe, JK., Johnson, JL., Ostrander, EA., Aguirre, GD., Acland, GM. : |
| Linkage mapping of canine rod cone dysplasia type 2 (rcd2) to CFA7, the canine orthologue of human 1q32. Invest Ophthalmol Vis Sci 47:1210-5, 2006. Pubmed reference: 16505060. DOI: 10.1167/iovs.05-0861. | |
| 2002 | Akhmedov, N.B., Baldwin, V.J., Zangerl, B., Kijas, J.W., Hunter, L., Minoofar, K.D., Mellersh, C., Ostrander, E.A., Acland, G.M., Farber, D.B., Aguirre, G.D. : |
| Cloning and characterization of the canine photoreceptor specific cone-rod homeobox (CRX) gene and evaluation as a candidate for early onset photoreceptor diseases in the dog Molecular Vision 8:79-84, 2002. Pubmed reference: 11951083. | |
| 1999 | Wang, W.Q., Zhang, Q., Acland, G.M., Mellersh, C., Ostrander, E.A., Ray, K., Aguirre, G.D. : |
| Molecular characterization and mapping of canine cGMP-phosphodiesterase delta subunit (PDE6D) Gene 236:325-332, 1999. Pubmed reference: 10452952. | |
| Wang, W.Q., Acland, G.M., Ray, K., Aguirre, G.D. : | |
| Evaluation of cGMP-phosphodiesterase (PDE) subunits for causal association with rod-cone dysplasia 2 (rcd2), a canine model of abnormal retinal cGMP metabolism Experimental Eye Research 69:445-453, 1999. Pubmed reference: 10504278. DOI: 10.1006/exer.1999.0720. | |
| 1997 | Akhmedov, N.B., Piriev, N.I., Ray, K., Acland, G.M., Aguirre, G.D., Farber, D.B. : |
| Structure and analysis of the transducin BETA-3-SUBUNIT gene, a candidate for inherited cone degeneration (cd) in the dog Gene 194:47-56, 1997. Pubmed reference: 9266671. | |
| Kylma, T., Paulin, L., Hurwitz, M.Y., Hurwitz, R.L., Kommonen, B. : | |
| Cloning and analysis of the cdna encoding the rod g-protein transducin alpha, BETA-1 and GAMMA-1 subunits from the canine retina Gene 193:1-4, 1997. Pubmed reference: 9249060. | |
| Ray, K., Baldwin, V.J., Zeiss, C., Acland, G.M., Aguirre, G.D. : | |
| Canine rod transducin ALPHA-1 - cloning of the cdna and evaluation of the gene as a candidate for progressive retinal atrophy Current Eye Research 16:71-77, 1997. Pubmed reference: 9043826. | |
| 1989 | Acland, G.M., Fletcher, R.T., Gentleman, S., Chader, G.J., Aguirre, G.D. : |
| Non-allelism of three genes (rcd1, rcd2, erd) for early-onset hereditary retinal degeneration Experimental Eye Research 49:983-998, 1989. Pubmed reference: 2558906. | |
| 1982 | Woodford, B.J., Liu, Y., Fletcher, R.T., Chader, G.J., Farber, D.B., Santos-Anderson, R., Tso, M.O. : |
| Cyclic nucleotide metabolism in inherited retinopathy in collies: a biochemical and histochemical study. Exp Eye Res 34:703-14, 1982. Pubmed reference: 6282610. | |
| 1980 | Santos-Anderson, R.M., Tso, M.O., Wolf, E.D. : |
| An inherited retinopathy in collies. A light and electron microscopic study. Invest Ophthalmol Vis Sci 19:1281-94, 1980. Pubmed reference: 7429765. | |
| 1978 | Wolf, E.D., Vainisi, S.J., Santos-Anderson, R. : |
| Rod cone dysplasia in the Collie J Am Vet Med Assoc 173:1331-3, 1978. Pubmed reference: 730609. |
Edit History
- Created by Frank Nicholas on 12 Jul 2009
- Changed by Frank Nicholas on 14 Sep 2011
- Changed by Frank Nicholas on 29 Nov 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Imke Tammen2 on 16 Jun 2023
- Changed by Imke Tammen2 on 17 Jun 2023