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Canine Multifocal Retinopathy 2 (cmr2)

Breed: Coton de Tulear

Generic Phene Data

Breeds

Relevance Rating: There is some evidence or research available in this breed

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 in this breed

General

Disease Name
Canine Multifocal Retinopathy 2 (cmr2)
Mutation
c.482G>A
Test Type
Genetic Disease/Disorder
Details
Canine multifocal retinopathy 2 is an inherited disease in dogs affecting the retina. Changes are usually present in animals affected with CMR before 4 months of age and are characterized by small light-coloured lesions (retina) is separating/folding (10-14 weeks of age). These multifocal areas of retinal are typically found in both eyes and can appear gray, tan, orange or pink and vary in number, size and location. Vision loss is reported, but it seems some dogs do fairly well into old age, and some do not.
Details 2
Canine multifocal retinopathy 2 is an inherited disease in dogs affecting the retina. The disease belongs to a group of inherited retinal disorders primarily caused by mutations scattered throughout the entire BEST1, a gene necessary for retinal pigment epithelium (RPE) function (CMR1, CMR2, CMR3). Salient fundus changes are usually present in animals affected with CMR before 4 months of age and are characterized by multifocal areas of retinal which in older dogs progress to multifocal areas of outer retinal atrophy. "Signs of cmr include multiple tan-pink subretinal patches in both the tapetal and the non-tapetal fundus along with focal areas of tapetal hyper-reflectivity. The lesions elevate the retina, progressing as the dog ages, to focal areas of retinal degeneration and retinal pigment epithelial hypertrophy and pigmentation" (Grahn et al., 1998).
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.

Breed Specific Data

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
BEST1
Mutation
c.482G>A

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.482G>A
Nature of test
mutation test
FCI Number
283
GTP Breed
Coton de Tulear

VHL Genetics

GTP Name
VHL Genetics
Gene Name
BEST1
Mutation
c.482G>A

VetGen LLC

GTP Name
VetGen LLC
Gene Name
BEST1
Mutation
c.482G>A

Veterinary Genetics Laboratory

GTP Name
Veterinary Genetics Laboratory
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.482G>A
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
283
GTP Breed
Coton de Tuleur

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
BEST1
Mutation
c.482G>A

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
BEST1
Mutation
c.482G>A

Paw Print Genetics

GTP Name
Paw Print Genetics
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.482G>A
Nature of test
mutation test
FCI Number
283

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.482G>A
Nature of test
mutation test
FCI Number
283

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
BEST1
Mutation
c.482G>A

INNO

GTP
GTP Name
INNO
Gene Name
BEST1
Mutation
c.482G>A

GenSol Diagnostics

GTP Name
GenSol Diagnostics
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.482G>A

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.482G>A
Nature of test
mutation test
FCI Number
283
GTP Breed
Coton de Tulear

Genomia s.r.o

GTP Name
Genomia s.r.o
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
GTP Disease Synonym
Multifocal Retinopathy
Gene Name
BEST1
Mutation
c.482G>A
Nature of test
mutation test
FCI Number
283
GTP Breed
Coton de Tulear

EVG Diagnostics

GTP Name
EVG Molecular Diagnostics
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
GTP Disease Synonym
Canine Muiltifocal Retinopathy 2(cmr2)
Gene Name
BEST1
Mutation
c.482G>A
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
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
283
GTP Breed
Coton de Tuleur

Embark

GTP
GTP Name
Embark
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.482G>A
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
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
283
GTP Breed
Coton de Tuleur

CMSCH

GTP
GTP Name
CMSCH
Gene Name
BEST1
Mutation
c.482G>A

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
BEST1
Mutation
c.482G>A

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
GTP Disease Synonym
Multifocal Retinopathy
Gene Name
BEST1
Mutation
c.482G>A
Nature of test
mutation test
FCI Number
283
GTP Breed
Coton de Tulear

BioBank AS

GTP Name
BioBank AS
Gene Name
BEST1
Mutation
c.482G>A

Antagene

GTP
GTP Name
Antagene
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.482G>A
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
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
283
GTP Breed
Coton de Tuleur

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
BEST1
Mutation
c.482G>A
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