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Progressive Retinal Atrophy, PRA1

Breed: Toy Fox Terrier

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
2601_2602insC

Anicom

GTP
GTP Name
Anicom
GTP Disease Name
Progressive Retinal Atrophy, GR_PRA1
Gene Name
SLC4A3
Mutation
2601_2602insC

BioBank AS

GTP Name
BioBank AS
Gene Name
SLC4A3
Mutation
2601_2602insC

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
SLC4A3
Mutation
2601_2602insC

CMSCH

GTP
GTP Name
CMSCH
Gene Name
SLC4A3
Mutation
2601_2602insC

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
-4
GTP Breed
Toy Fox Terrier

INNO

GTP
GTP Name
INNO
Gene Name
SLC4A3
Mutation
2601_2602insC

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
SLC4A3
Mutation
2601_2602insC

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
-4
GTP Breed
Toy Fox Terrier

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
SLC4A3
Mutation
2601_2602insC

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
2601_2602insC

VHL Genetics

GTP Name
VHL Genetics
Gene Name
SLC4A3
Mutation
2601_2602insC

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
SLC4A3
Mutation
2601_2602insC
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