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Canine Multifocal Retinopathy 3

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Test Overview:

Do not breed affected dogs (CMR3/CMR3), as all their puppies will inherit the mutation and be affected or carriers. Avoid breeding two carriers (N/CMR3 x N/CMR3) since there is a 25% chance that puppies will be affected (CMR3/CMR3). Carriers (N/CMR3) can be safely bred to genetically clear (N/N) dogs. The resulting puppies will be 50% carriers and 50% clear, but none will be affected. If a dog is affected (CMR3/CMR3), it can only be bred to a clear dog (N/N) to produce all carriers, but this is generally not recommended to avoid spreading the mutation. Puppies from litters expected to contain carriers should be tested prior to future breeding decisions.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

BEST1

Variant Detected:

deletion (c.1388delC) and substitution (c.1466G>T) in exon 10

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):

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):

Finnish Lapphund, Lapponian Herder, Scottish Deerhound, Swedish Lapphund,

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