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Canine Multifocal Retinopathy 1 (cmr1)
Breed: Pyrenean Mountain Dog
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
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
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
BEST1
Mutation
c.73C>T
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
GTP Disease Synonym
Multifocal Retinopathy
Gene Name
BEST1
Mutation
c.73C>T
Nature of test
mutation test
FCI Number
137
GTP Breed
Pyrenean mountain dog
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
BEST1
Mutation
c.73C>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
BEST1
Mutation
c.73C>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
BEST1
Mutation
c.73C>T
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.73C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 a
Application in the Breed
Carriers may be bred to normal animals (N/cmr1 x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/cmr1 x N/cmr1) nor of affected animals (cmr1/cmr1). Small light-coloured lesions (retina) is separating/folding (10-14 weeks of age), rarely causes vision problems
Inheritance
AR
FCI Number
137
GTP Breed
Pyrenean mountain dog
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
BEST1
Mutation
c.73C>T
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
GTP Disease Synonym
Multifocal Retinopathy
Gene Name
BEST1
Mutation
c.73C>T
Mutation Comment
g.54478586G>A
Nature of test
mutation test
FCI Number
137
GTP Breed
Pyrenean mountain dog
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.73C>T
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.73C>T
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
BEST1
Mutation
c.73C>T
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.73C>T
Nature of test
mutation test
FCI Number
137
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
BEST1
Mutation
c.73C>T
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
GTP Disease Synonym
Multifocal Retinopathy
Gene Name
BEST1
Mutation
c.73C>T
Nature of test
mutation test
FCI Number
137
GTP Breed
Pyrenean mountain dog
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
BEST1
Mutation
c.73C>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
BEST1
Mutation
c.73C>T
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.73C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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):195
Application in the Breed
Carriers may be bred to normal animals (N/cmr1 x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/cmr1 x N/cmr1) nor of affected animals (cmr1/cmr1). Small light-coloured lesions (retina) is separating/folding (10-14 weeks of age), rarely causes vision problems
Inheritance
AR
FCI Number
137
GTP Breed
Pyrenean mountain dog
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
BEST1
Mutation
c.73C>T
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
BEST1
Mutation
c.73C>T
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.73C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 a
Application in the Breed
Carriers may be bred to normal animals (N/cmr1 x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/cmr1 x N/cmr1) nor of affected animals (cmr1/cmr1). Small light-coloured lesions (retina) is separating/folding (10-14 weeks of age), rarely causes vision problems
Inheritance
AR
FCI Number
137
GTP Breed
Pyrenean mountain dog
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
BEST1
Mutation
c.73C>T
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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