OMIA:001669-9615 : Retinal atrophy - Rod-cone dysplasia 1a in Canis lupus familiaris (dog)
Categories: Vision / eye phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2000
Cross-species summary: This disorder has been named in OMIA on the basis of the review by Miyadera et al. (2012)
Species-specific symbol: rcd1a
Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Dekomien et al. (2000) reported the causal mutation in Sloughi dogs as being "an 8-bp insertion after codon 816" of the PDE6B gene.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PDE6B||phosphodiesterase 6B, cGMP-specific, rod, beta||Canis lupus familiaris||3||NC_051807.1 (92774237..92746064)||PDE6B||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|
|582||Sloughi||Rod-cone dysplasia 1a||PDE6B||insertion, small (<=20)||Naturally occurring variant||CanFam3.1||3||g.91747685_91747686insACTTCAGG||c.2448_2449insTGAAGTCC||p.(K817*)||NM_001002934.2; NP_001002934.2; "an 8-bp insertion after codon 816" of the PDE6B gene||2000||11124530|
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.
|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.|
|2000||Dekomien, G., Runte, M., Gödde, R., Epplen, J.T. :|
|Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet 90:261-7, 2000. Pubmed reference: 11124530. DOI: 10.1159/000056785.|
- Created by Frank Nicholas on 29 Nov 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 15 Sep 2012