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Canine Multifocal Retinopathy CMR3 (Lapphund Type)

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Test Overview:

Do not breed affected dogs (homozygous for CMR3 mutation) to prevent affected litters. Avoid mating two carriers, as there is a 25% risk of producing affected offspring per litter. Breed carriers only to genetically clear (non-carrier) dogs, producing no affected puppies but some carriers. Routine genetic screening of breeding stock in Lapphund breeds is strongly recommended. Responsible breeding balances reducing disease incidence with preserving genetic diversity.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

Bestrophin 1 (BEST1) on chromosome 18

Variant Detected:

deletion (c.1388delC) and a 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

Recommended Screening:

Genetic testing of the BEST1 gene will reliably determine if a dog is a carrier for Canine Multifocal Retinopathy CMR3.

Research Citation(s):

Zangerl B, et al. Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). (2010), Mol Vis, 16:2791-2804.

Associated Breed(s):

Finnish Lapphund, Keeshond, Lapponian Herder, Mixed Breed, Swedish Lapphund,

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