OMIA 002282-9615 : Progressive retinal atrophy, PDE6B-related in Canis lupus familiaris
|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|
|1230||Spanish water dog||PRA, PDE6B-related||PDE6B||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||3||g.91749865_91749870del||c.2218-2223del||p.(F740_F741del)||NM_001002934.1; NP_001002934.1||2020||32639685|
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.
|2022||Park, S.A., Rhodes, J., Iwabe, S., Ying, G.S., Pan, W., Huang, J., Komáromy, A.M. :|
|Quantitative and qualitative characterization of retinal dystrophies in canine models of inherited retinal diseases using spectral domain optical coherence tomography (SD-OCT). Exp Eye Res :109106, 2022. Pubmed reference: 35588783. DOI: 10.1016/j.exer.2022.109106.|
|2020||Winkler, P.A., Ramsey, H.D., Petersen-Jones, S.M. :|
|A novel mutation in PDE6B in Spanish Water Dogs with early-onset progressive retinal atrophy. Vet Ophthalmol :, 2020. Pubmed reference: 32639685. DOI: 10.1111/vop.12792.|
- Created by Frank Nicholas on 19 Jul 2020
- Changed by Frank Nicholas on 19 Jul 2020