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Canine Multifocal Retinopathy 3 (cmr3)
Breed: Lapponian Herder
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 in this breed
GTPs
General
Disease Name
Canine Multifocal Retinopathy 3 (cmr3)
OMIA
1554
Gene Name
BEST1
Mutation
c.1388del
Mutation 2
c.73C>T
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
Zangerl, B., Wickström, K., Slavik, J., Lindauer, S.J., Ahonen, S., Schelling, C., Lohi, H., Guziewicz, K.E., Aguirre, G.D. : Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol Vis 16:2791-804, 2010. Pubmed reference: 21197113.
Published 2
Guziewicz, K.E., Zangerl, B., Komáromy, A.M., Iwabe, S., Chiodo, V.A., Boye, S.L., Hauswirth, W.W., Beltran, W.A., Aguirre, G.D. : Recombinant AAV-Mediated BEST1 Transfer to the Retinal Pigment Epithelium: Analysis of Serotype-Dependent Retinal Effects. PLoS One 8:e75666, 2013. Pubmed reference: 24143172. DOI: 10.1371/journal.pone.0075666.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Lapponian Herder
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del; c.73C>T
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del; c.73C>T
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del; c.73C>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del; c.73C>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del; c.73C>T
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
GTP Disease Synonym
Multifocal Retinopathy
Gene Name
BEST1
Mutation
c.1388del
Nature of test
mutation test
GTP- or Breed-Specific Publications
Guziewicz, K.E., Zangerl, B., Kom??romy, A.M., Iwabe, S., Chiodo, V.A., Boye, S.L., Hauswirth, W.W., Beltran, W.A., Aguirre, G.D. : Recombinant AAV-Mediated BEST1 Transfer to the Retinal Pigment Epi
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
284
GTP Breed
Lapponian herder
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
CMR3
Gene Name
BEST1
Mutation
c.1388del
Mutation Comment
g.54470590del
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del; c.73C>T
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del; 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
GTP Disease Synonym
Multifocal Retinopathy
Gene Name
BEST1
Mutation
c.1388del; c.73C>T
Nature of test
mutation test
FCI Number
284
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.1388del
Nature of test
mutation test
FCI Number
284
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del; c.73C>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del; c.73C>T
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
GTP Disease Synonym
Multifocal Retinopathy
Gene Name
BEST1
Mutation
c.1388del
Nature of test
mutation test
GTP- or Breed-Specific Publications
Zangerl B, Wickstróm K, Slavik J, Lindauer SJ, Ahonen S, Schelling C, Lohi H, Guziewicz KE, Aguirre GD. Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol Vis. 2010 Dec 16; 16:2
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
284
GTP Breed
Lapponian herder
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del; c.73C>T
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del; c.73C>T
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Canine Multifocal Retinopathy, CMR2, CMR3, CMR1
GTP Disease Synonym
Multifocal Retinopathy
Gene Name
BEST1
Mutation
c.1388del
Nature of test
mutation test
FCI Number
284
GTP Breed
Lapponian herder
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
BEST1
Mutation
c.1388del; c.73C>T
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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