OMIA 001675-9615 : Cone-rod dystrophy 2 in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|IQCB1||IQ motif containing B1||Canis lupus familiaris||33||NC_051837.1 (25348614..25282284)||IQCB1||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|
|American Pit Bull Terrier||Cone-rod dystrophy 2||IQCB1||insertion, small (<=20)||CanFam2.0||33||g.28120686_28120687insC||c.952_53insC||p.S319IfsX12||2013||24045995|
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||Aguirre, G.D., Cideciyan, A.V., Dufour, V.L., Ripolles-García, A., Sudharsan, R., Swider, M., Nikonov, R., Iwabe, S., Boye, S.L., Hauswirth, W.W., Jacobson, S.G., Beltran, W.A. :|
|Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis. Mol Ther :, 2021. Pubmed reference: 33781914. DOI: 10.1016/j.ymthe.2021.03.021.|
|2016||Downs, L.M., Scott, E.M., Cideciyan, A.V., Iwabe, S., Dufour, V., Gardiner, K.L., Genini, S., Marinho, L.F., Sumaroka, A., Kosyk, M.S., Swider, M., Aguirre, G.K., Jacobson, S.G., Beltran, W.A., Aguirre, G.D. :|
|Overlap of Abnormal Photoreceptor Development and Progressive Degeneration in Leber Congenital Amaurosis Caused by NPHP5 Mutation. Hum Mol Genet :, 2016. Pubmed reference: 27506978. DOI: 10.1093/hmg/ddw254.|
|2013||Goldstein, O., Mezey, J.G., Schweitzer, P.A., Boyko, A.R., Gao, C., Bustamante, C.D., Jordan, J.A., Aguirre, G.D., Acland, G.M. :|
|IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. Invest Ophthalmol Vis Sci 54:7005-19, 2013. Pubmed reference: 24045995. DOI: 10.1167/iovs.13-12915.|
|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.|
|2004||Kijas, J.W., Zangerl, B., Miller, B., Nelson, J., Kirkness, E.F., Aguirre, G.D., Acland, G.M. :|
|Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies. Mol Vis 10:223-32, 2004. Pubmed reference: 15064680.|
- Created by Frank Nicholas on 07 Dec 2011
- Changed by Frank Nicholas on 07 Dec 2011
- Changed by Frank Nicholas on 24 Sep 2013
- Changed by Frank Nicholas on 01 Oct 2015
- Changed by Imke Tammen2 on 19 Apr 2021