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Canine Multifocal Retinopathy 1 (cmr1)

Breed: Pyrenean mountain dog

Generic Phene Data

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

General

Disease Name
Canine Multifocal Retinopathy 1 (cmr1)
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.

Breed Specific Data

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
BEST1
Mutation
c.73C>T

Antagene

GTP
GTP Name
Antagene
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 Name
BioBank AS
Gene Name
BEST1
Mutation
c.73C>T

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
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

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
BEST1
Mutation
c.73C>T

CMSCH

GTP
GTP Name
CMSCH
Gene Name
BEST1
Mutation
c.73C>T

Embark

GTP
GTP Name
Embark
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

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.73C>T
Nature of test
mutation test
FCI Number
137
GTP Breed
Pyrenean mountain dog

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
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

GenSol Diagnostics

GTP Name
GenSol Diagnostics
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.73C>T

INNO

GTP
GTP Name
INNO
Gene Name
BEST1
Mutation
c.73C>T

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
BEST1
Mutation
c.73C>T

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.73C>T
Nature of test
mutation test
FCI Number
137

Paw Print Genetics

GTP Name
Paw Print Genetics
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
Gene Name
BEST1
Mutation
c.73C>T

Independent Veterinary Laboratory POISK

GTP Name
Independent Veterinary Laboratory POISK
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
Gene Name
BEST1
Mutation
c.73C>T

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
BEST1
Mutation
c.73C>T

Veterinary Genetics Laboratory

GTP Name
Veterinary Genetics Laboratory
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 Name
VetGen LLC
Gene Name
BEST1
Mutation
c.73C>T

VHL Genetics

GTP Name
VHL Genetics
Gene Name
BEST1
Mutation
c.73C>T

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.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
Gene Name
BEST1
Mutation
c.73C>T
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