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Collie eye anomaly in Hokkaido dogs: case study
Keijiro Mizukami1, Hye-Sook Chang, Mitsuharu Ota
1Laboratory of Clinical Pathology, Department of Veterinary Clinical Sciences, Faculty of Agriculture, Kagoshima University, 1-21-24 Kohrimoto, Kagoshima 890-0065, Japan.
Veterinary Ophthalmology
|November 5, 2011
Summary
Collie eye anomaly (CEA) is prevalent in Hokkaido dogs due to a high frequency of the associated mutation. This genetic mutation makes the Hokkaido breed highly susceptible to CEA, similar to Collie-related breeds.
Area of Science:
- Veterinary Ophthalmology
- Canine Genetics
Background:
- Collie eye anomaly (CEA) is a hereditary disease affecting several dog breeds.
- Traditional Japanese breeds, like the Hokkaido dog, are increasingly being evaluated for genetic disorders.
Observation:
- A Hokkaido dog presented with ophthalmoscopic signs consistent with CEA, including bilateral temporal choroidal hypoplasia.
- Genetic analysis identified the intronic 7.8-kilobase deletion in the canine NHEJ1 gene, a known mutation associated with CEA.
Findings:
- The affected Hokkaido dog was confirmed to carry the CEA-associated mutation.
- A preliminary survey of 17 Hokkaido dogs revealed a high allelic frequency of the mutation, with 12 carriers and 5 affected individuals.
- Pedigree analysis supported a high prevalence of the mutation within the Hokkaido breed.
Implications:
- The Hokkaido breed exhibits high susceptibility to CEA, driven by the widespread presence of the identified NHEJ1 gene mutation.
- This finding necessitates genetic screening and potential breeding management strategies to mitigate CEA in Hokkaido dogs.
- Understanding breed-specific genetic predispositions is crucial for effective conservation and health management of traditional dog breeds.
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