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|
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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|
|606||American Pit Bull Terrier||Cone-rod dystrophy 2||IQCB1||insertion, small (<=20)||Naturally occurring variant||CanFam3.1||33||g.25078909_25078910insC||c.952_53insC||p.(S319Ifs*12)||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
- Changed by Imke Tammen2 on 18 Aug 2021