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Canine Multifocal Retinopathy CMR1 (Coton de Tulear Type)

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Test Overview:

Do not breed affected dogs (homozygous for the mutation) to prevent affected offspring. Avoid breeding two carriers, as mating carriers results in a 25% chance per puppy of being affected. Carriers can be safely bred to genetically clear dogs, producing no affected puppies but some carriers. Genetic testing of breeding stock is strongly recommended, especially in Coton de Tulears, to manage the disease responsibly and maintain breed health.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

Bestrophin 1 (BEST1) on chromosome 18

Variant Detected:

chr18:54476143 (canFam3): G>A

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Guziewicz KE, Zangerl B, Lindauer SJ, Mullins RF, Sandmeyer LS, Grahn BH, Stone EM, Acland GM, Aguirre GD. Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci. 2007 May; 48(5):1959-67. [PubMed: 17460247] Zangerl B, Wickström K, Slavik J, Lindauer SJ, Ahonen S, Schelling C, Lohi H, Guziewicz KE, Aguirre GD. Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol Vis. 2010 Dec 16; 16:2791-804. [PubMed: 21197113]

Associated Breed(s):

Coton De Tulear, Mixed Breed,

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