OMIA 001676-9615 : Achromatopsia (cone degeneration, hemeralopia), GSPT in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CNGB3||cyclic nucleotide gated channel beta 3||Canis lupus familiaris||29||NC_051833.1 (33163070..32900394)||CNGB3||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|
|German Shorthaired Pointer||Achromatopsia (cone degeneration, hemeralopia), GSPT||CNGB3||missense||CanFam3.1||29||g.32837065G>A||c.784G>A||p.D262N||2002||12140185||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool 30 Dec 2020 Chromosome corrected, thanks to Angelica K Kallenberg|
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.
|2020||Switonski, M. :|
|Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. J Appl Genet :, 2020. Pubmed reference: 32189222. DOI: 10.1007/s13353-020-00554-8.|
|2017||Ye, G.J., Komáromy, A.M., Zeiss, C., Calcedo, R., Harman, C.D., Koehl, K.L., Stewart, G.A., Iwabe, S., Chiodo, V.A., Hauswirth, W.W., Aguirre, G.D., Chulay, J.D. :|
|Safety and Efficacy of AAV5 Vectors Expressing Human or Canine CNGB3 in CNGB3-Mutant Dogs. Hum Gene Ther Clin Dev 28:197-207, 2017. Pubmed reference: 29020838. DOI: 10.1089/humc.2017.125.|
|2016||Dixon, C.J. :|
|Achromatopsia in three sibling Labrador Retrievers in the UK. Vet Ophthalmol 19:68-72, 2016. Pubmed reference: 25752464. DOI: 10.1111/vop.12265.|
|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.|
|2002||Sidjanin, D.J., Lowe, J.K., McElwee, J.L., Milne, B.S., Phippen, T.M., Sargan, D.R., Aguirre, G.D., Acland, G.M., Ostrander, E.A. :|
|Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3 Human Molecular Genetics 11:1823-33, 2002. Pubmed reference: 12140185.|
- Created by Frank Nicholas on 07 Dec 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 19 Sep 2012