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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
GTPs
Agrotis S.r.l.
Antagene
BioBank AS
Generatio GmbH Center for Animal Genetics
Certagen GmbH
CMSCH
Embark
EVG Diagnostics
Genomia s.r.o
GenSol Diagnostics
INNO
Laboklin Gmbh & Co. KG
Laboratorios Labocor S.L.
Paw Print Genetics
PharmaDNA
Progènes-ADN
Veterinary Genetics Laboratory
VetGen LLC
VHL Genetics
Wisdom Panel - Kinship
Zoolyx
AnimaLabs

General

Disease Name
Canine Multifocal Retinopathy 2 (cmr2)
OMIA
1553
Gene Name
BEST1
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.
Body/System/Process
Eye
Inheritance
AR

Breed Specific Info

Researched Breeds
Coton du Tulear

HSP Test-Specific Data

Agrotis S.r.l.

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

Antagene

GTP
GTP Name
Antagene
Breed
OMIA
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

BioBank AS

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

Generatio GmbH Center for Animal Genetics

GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
BEST1
Mutation
c.482G>A

Certagen GmbH

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

CMSCH

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

Embark

GTP
GTP Name
Embark
Breed
OMIA
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

EVG Diagnostics

GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
BEST1
Mutation
c.482G>A

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.482G>A
Mutation Comment
g.54476143C>T
Nature of test
mutation test
FCI Number
283
GTP Breed
Coton de Tulear

GenSol Diagnostics

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

INNO

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

Laboratorios Labocor S.L.

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

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.482G>A
Nature of test
mutation test
FCI Number
283

Paw Print Genetics

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

PharmaDNA

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

Progènes-ADN

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

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.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

VetGen LLC

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

VHL Genetics

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

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.482G>A
Nature of test
mutation test
FCI Number
283
GTP Breed
Coton de Tulear

Zoolyx

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

AnimaLabs

GTP
GTP Name
AnimaLabs
Breed
OMIA
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