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Canine Multifocal Retinopathy 1 (cmr1)
Breed: Continental Bulldog
Generic Phene Data
Breeds
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Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Canine Multifocal Retinopathy 1 (cmr1)
OMIA
1444
Gene Name
BEST1
Mutation
c.73C>T
Test Type
Genetic Disease/Disorder
Details
Small light-coloured lesions (retina) is separating/folding (10-14 weeks of age), rarely causes vision problems
Published
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 48:1959-67, 2007. Pubmed reference: 17460247. DOI: 10.1167/iovs.06-1374.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Canine multifocal retinopathy type 1
GTP Disease Synonym
CMR1
Gene Name
BEST1 (VMD2)
Mutation
c.73C>T
Mutation Comment
g.54478586G>A
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