OMIA 001669-9615 : Rod-cone dysplasia 1a 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_006585.3 (91775372..91746571)||PDE6B||Homologene, Ensembl, NCBI gene|
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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Sloughi||Rod-cone dysplasia 1a||PDE6B||insertion, small (<=20)||"an 8-bp insertion after codon 816" of the PDE6B gene||2000||11124530|
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.
|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.|
- Created by Frank Nicholas on 29 Nov 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 15 Sep 2012