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The most common causes for the disease are mutations in the<jats:italic>CNGB3<\/jats:italic>gene, coding for the<jats:italic>beta<\/jats:italic>subunit of the cyclic nucleotide-gated channels in cones.<jats:italic>CNGB3<\/jats:italic>-achromatopsia, or cone degeneration (cd), is also known to occur in two canine breeds, the Alaskan malamute (AM) and the German shorthaired pointer.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Here we report an in-depth characterization of the achromatopsia phenotype in a new canine breed, the miniature Australian shepherd (MAS). Genotyping revealed that the dog was homozygous for a complete genomic deletion of the<jats:italic>CNGB3<\/jats:italic>gene, as has been previously observed in the AM. Identical breakpoints on chromosome 29 were identified in both the affected AM and MAS with a resulting deletion of 404,820\u00a0bp. Pooled DNA samples of unrelated purebred Australian shepherd, MAS, Siberian husky, Samoyed and Alaskan sled dogs were screened for the presence of the affected allele; one Siberian husky and three Alaskan sled dogs were identified as carriers. The affected chromosomes from the AM, MAS, and Siberian husky were genotyped for 147 SNPs in a 3.93\u00a0Mb interval within the<jats:italic>cd<\/jats:italic>locus. An identical shared affected haplotype, 0.5\u00a0Mb long, was observed in all three breeds and defined the minimal linkage disequilibrium (LD) across breeds. This supports the idea that the mutated allele was identical by descent (IBD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report the occurrence of<jats:italic>CNGB3<\/jats:italic>-achromatopsia in a new canine breed, the MAS. The<jats:italic>CNGB3<\/jats:italic>-deletion allele previously described in the AM was also observed in a homozygous state in the affected MAS, as well as in a heterozygous carrier state in a Siberian husky and Alaskan sled dogs. All affected alleles were shown to be IBD, strongly suggesting an affected founder effect. Since the MAS is not known to be genetically related to the AM, other breeds may potentially carry the same cd-allele and be affected by achromatopsia.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1471-2156-14-27","type":"journal-article","created":{"date-parts":[[2013,4,20]],"date-time":"2013-04-20T02:17:40Z","timestamp":1366424260000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia"],"prefix":"10.1186","volume":"14","author":[{"given":"Connie Y","family":"Yeh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orly","family":"Goldstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna V","family":"Kukekova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debbie","family":"Holley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy M","family":"Knollinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather J","family":"Huson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan E","family":"Pearce-Kelling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory M","family":"Acland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e1s M","family":"Kom\u00e1romy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,4,20]]},"reference":[{"key":"1092_CR1","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1136\/bjo.2003.027102","volume":"88","author":"M Michaelides","year":"2004","unstructured":"Michaelides M, Hunt DM, Moore AT: The cone dysfunction syndromes. 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