OMIA 001521-9615 : Generalized PRA in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CCDC66||coiled-coil domain containing 66||Canis lupus familiaris||20||NC_006602.3 (33758846..33714224)||CCDC66||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|
|Schapendoes||Generalized PRA||CCDC66||insertion, small (<=20)||20||"a 1-bp insertion in exon 6 leading to a stop codon"||2010||19777273|
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.|
|2010||Dekomien, G., Vollrath, C., Petrasch-Parwez, E., Boevé, M.H., Akkad, D.A., Gerding, W.M., Epplen, J.T. :|
|Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene. Neurogenetics 11:163-74, 2010. Pubmed reference: 19777273. DOI: 10.1007/s10048-009-0223-z.|
|2007||Lippmann, T., Jonkisz, A., Dobosz, T., Petrasch-Parwez, E., Epplen, JT., Dekomien, G. :|
|Haplotype-defined linkage region for gPRA in Schapendoes dogs. Mol Vis 13:174-80, 2007. Pubmed reference: 17327822.|
- Created by Frank Nicholas on 02 Nov 2010
- Changed by Frank Nicholas on 28 Sep 2011
- Changed by Frank Nicholas on 02 Dec 2011
- Changed by Frank Nicholas on 07 Dec 2011
- Changed by Frank Nicholas on 12 Dec 2011