OMIA 002179-9615 : Stargardt disease 1 in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ABCA4||ATP-binding cassette, sub-family A (ABC1), member 4||Canis lupus familiaris||6||NC_006588.3 (55058361..55186255)||ABCA4||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|
|Labrador Retriever||Stargardt disease 1||ABCA4||insertion, small (<=20)||CanFam3.1||6||g.55146549insC||c.4176insC||p.F1393Lfs*1395||Mäkeläinen et al. (2019): "ENSCAFT00000005367 exon28 4170dupC* V1390fs" Importantly, the same authors also explain in Table S3 that "*The insertion is found in a cytosine mononucleotide-repeat region [55,146,550–55,146,556] and it is arbitrary at what position the actual insertion occurs. In the text we have denoted the insertion as c.4176insC, p.F1393Lfs*1395)."||2019||30889179|
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.
|2019||Mäkeläinen, S., Gòdia, M., Hellsand, M., Viluma, A., Hahn, D., Makdoumi, K., Zeiss, C.J., Mellersh, C., Ricketts, S.L., Narfström, K., Hallböök, F., Ekesten, B., Andersson, G., Bergström, T.F. :|
|An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease. PLoS Genet 15:e1007873, 2019. Pubmed reference: 30889179. DOI: 10.1371/journal.pgen.1007873.|
|2010||Zangerl, B., Lindauer, S.J., Acland, G.M., Aguirre, G.D. :|
|Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies. Mol Genet Genomics 284:243-50, 2010. Pubmed reference: 20661590.|
|2006||Lippmann, T., Pasternack, S.M., Kraczyk, B., Dudek, S.E., Dekomien, G. :|
|Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs. J Negat Results Biomed 5:19, 2006. Pubmed reference: 17134500. DOI: 10.1186/1477-5751-5-19.|
|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 25 Mar 2019
- Changed by Frank Nicholas on 25 Mar 2019