{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T00:29:04Z","timestamp":1777422544317,"version":"3.51.4"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,7,12]],"date-time":"2017-07-12T00:00:00Z","timestamp":1499817600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T35 OD010956"],"award-info":[{"award-number":["T35 OD010956"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["5 T32 OD010931"],"award-info":[{"award-number":["5 T32 OD010931"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Veterinary Ophthalmology"],"published-print":{"date-parts":[[2018,3]]},"abstract":"Abstract<\/jats:title>Collie eye anomaly (CEA<\/jats:styled-content>) encompasses a spectrum of different ophthalmic phenotypes from clinically inconsequential choroidal hypoplasia to blindness from coloboma of the optic nerve head (ONH<\/jats:styled-content>). A previous study found a 7.8\u2010kb deletion in intron 4 of the NHEJ<\/jats:styled-content>1<\/jats:italic> gene to be associated with CEA<\/jats:styled-content>. A genetic test based on this association is recommended for many breeds, including the Nova Scotia Duck Tolling Retriever (NSDTR<\/jats:styled-content>). Collection of ONH<\/jats:styled-content> coloboma\u2010affected NSDTR<\/jats:styled-content> showed lack of concordance of the NHEJ<\/jats:styled-content>1<\/jats:italic> intronic deletion with ONH<\/jats:styled-content> coloboma. Using genomewide single nucleotide polymorphism (SNP<\/jats:styled-content>) genotyping in 7 ONH<\/jats:styled-content> coloboma\u2010affected NSDTR<\/jats:styled-content> cases and 47 unaffected NSDTR<\/jats:styled-content> controls with no ophthalmic signs, one SNP<\/jats:styled-content>, located on chromosome 7, demonstrated genomewide significance. However, high genomic inflation may have confounded the results. Therefore, the genomewide association study was repeated using EMMAX<\/jats:styled-content> to control for population structure in the cohort of 7 cases and 47 controls. However, no regions of the genome were significantly associated with ONH<\/jats:styled-content> coloboma. These results failed to document significant association with the CEA<\/jats:styled-content> locus. Due to the complex genetic etiology of ONH<\/jats:styled-content> coloboma, the NHEJ<\/jats:styled-content>1<\/jats:italic> intronic deletion test results should be carefully considered when making breeding decisions. If the goal is to select for visually competent dogs, our data suggest that eye examinations of puppies would be more effective as a guide in selection of breeding pairs than relying solely on currently available genetic tests.<\/jats:p>","DOI":"10.1111\/vop.12488","type":"journal-article","created":{"date-parts":[[2017,7,13]],"date-time":"2017-07-13T01:14:31Z","timestamp":1499908471000},"page":"144-150","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Genetic analysis of optic nerve head coloboma in the Nova Scotia Duck Tolling Retriever identifies discordance with the NHEJ<\/scp>1<\/i> intronic deletion (collie eye anomaly mutation)"],"prefix":"10.1111","volume":"21","author":[{"given":"Emily A.","family":"Brown","sequence":"first","affiliation":[{"name":"Department of Population Health and Reproduction School of Veterinary Medicine University of California\u2014Davis Davis CA 95616 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