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Progressive Retinal Atrophy, PRA1

Breed: Golden Retriever

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 for these breeds

General

Disease Name
Progressive Retinal Atrophy, PRA1
Mutation
c.2685delA2687_2688insTAGCTA
Mutation 2
2601_2602insC
Test Type
Genetic Disease/Disorder
Details
This form of PRA for the Golden Retriever is one of several that can be tested for. The signs of GR PRA1 are typical of the late-onset forms of the disease. Age of diagnosis is most often around 6 years, but there is variation across the breed. Dogs typically experience night blindness leading to reduced sight even in bright conditions. There are known to be more than one gene mutations that cause PRA(prcd) in the Golden Retriever. Any test for GR PRA 1 can only confirm for the mutation, or not, in this specific form.
Details 2
Most PRA cases in the Golden Retriever (GR) are clinically indistinguishable from other forms of PRA. The mode of inheritance appears from pedigree information to be autosomal recessive. While the age of diagnosis is most commonly at a relatively late age of approximately 6 years there is a great deal of variation within the breed. There are known to be more than one gene mutations that cause PRA(prcd) in the Golden Retriever.
Published
Downs, L.M., Wallin-Håkansson, B., Boursnell, M., Marklund, S., Hedhammar, Å., Truvé, K., Hübinette, L., Lindblad-Toh, K., Bergström, T., Mellersh, C.S. : A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS One 6:e21452, 2011. Pubmed reference: 21738669. DOI: 10.1371/journal.pone.0021452.

Breed Specific Info

Breed-specific 1
Golden Retrievers

Breed Specific Data

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
SLC4A3
Mutation
c.2685delA; c.2687_2688insTAGCTA

Animal Health Trust (UK)

GTP Name
Animal Health Trust (UK)
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
2601_2602insC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed
Inheritance
AR
FCI Number
111
GTP Breed
Golden Retriever

Anicom

GTP
GTP Name
Anicom
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
c.2685delA; c.2687_2688insTAGCTA

Antagene

GTP
GTP Name
Antagene
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
2601_2602insC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed
Inheritance
AR
FCI Number
111
GTP Breed
Golden Retriever

BioBank AS

GTP Name
BioBank AS
Gene Name
SLC4A3
Mutation
c.2685delA; c.2687_2688insTAGCTA

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
SLC4A3
Mutation
c.2685delA; c.2687_2688insTAGCTA

CMSCH

GTP
GTP Name
CMSCH
Gene Name
SLC4A3
Mutation
c.2685delA; c.2687_2688insTAGCTA

DNA My Dog

GTP Name
DNA My Dog
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
2601_2602insC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
111
GTP Breed
Golden Retriever

Embark

GTP
GTP Name
Embark
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
2601_2602insC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed
Inheritance
AR
FCI Number
111
GTP Breed
Golden Retriever

EVG Diagnostics

GTP Name
EVG Molecular Diagnostics
Gene Name
SLC4A3
Mutation
c.2685delA2687_2688insTAGCTA
Nature of test
mutation test
GTP- or Breed-Specific Publications
PLoS One 6:e21452, 2011

Genomia s.r.o

GTP Name
Genomia s.r.o
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
GTP Disease Synonym
Golden Retriever PRA
Gene Name
SLC4A3
Mutation
2601_2602insC
Nature of test
mutation test
FCI Number
111
GTP Breed
Golden Retriever

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
2601_2602insC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed
Inheritance
AR
FCI Number
111
GTP Breed
Golden Retriever

INNO

GTP
GTP Name
INNO
Gene Name
SLC4A3
Mutation
c.2685delA; c.2687_2688insTAGCTA

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
SLC4A3
Mutation
c.2685delA; c.2687_2688insTAGCTA

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
2601_2602insC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed
Inheritance
AR
FCI Number
111
GTP Breed
Golden Retriever

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
2601_2602insC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed
Inheritance
AR
FCI Number
111
GTP Breed
Golden Retriever

Paw Print Genetics

GTP Name
Paw Print Genetics
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
2601_2602insC
Nature of test
mutation test
FCI Number
111

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
SLC4A3
Mutation
c.2685delA; c.2687_2688insTAGCTA

Independent Veterinary Laboratory POISK

GTP Name
Independent Veterinary Laboratory POISK
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
2601_2602insC

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
SLC4A3
Mutation
c.2685delA; c.2687_2688insTAGCTA

Animal Genetics Laboratory, SLU

GTP Name
Animal Genetics Laboratory SLU
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
c.2685delA; c.2687_2688insTAGCTA
Nature of test
mutation test
FCI Number
111

Veterinary Genetics Laboratory

GTP Name
Veterinary Genetics Laboratory
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
2601_2602insC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Downs LM, Wallin-H??kansson B, Boursnell M, Marklund S, Hedhammar ??, Truv?? K, H?binette L, Lindblad-Toh K, Bergstróm T, Mellersh CS. 2011. A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene f
Application in the Breed
bilateral degeneration of the retina resulting in progressive vision loss leading to total blindness
Inheritance
AR
FCI Number
111
GTP Breed
Golden Retriever

VetGen LLC

GTP Name
VetGen LLC
Gene Name
SLC4A3
Mutation
2601_2602insC

VHL Genetics

GTP Name
VHL Genetics
Gene Name
SLC4A3
Mutation
c.2685delA; c.2687_2688insTAGCTA

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
2601_2602insC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed
Inheritance
AR
FCI Number
111
GTP Breed
Golden Retriever

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
SLC4A3
Mutation
c.2685delA; c.2687_2688insTAGCTA

The Kennel Club

GTP Name
The Kennel Club
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
2601_2602insC
This test is outsourced to:
Weatherby's
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