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Progressive Retinal Atrophy, GR PRA2
Breed: Golden Retriever
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 for these breeds
GTPs
General
Disease Name
Progressive Retinal Atrophy, GR PRA2
OMIA
1984
Gene Name
TTC8
Mutation
c.699delA
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 5 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 2 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 5 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.
Patents/ Licences
Patent: Pending. License: OptiGen - N. and S. America for Golden Retrievers. Test Discovery: Animal Health Trust. (please note that patent and licensing laws and coverage vary by country)
Published
Downs, L.M., Wallin-Håkansson, B., Bergström, T., Mellersh, C.S. : A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genet Epidemiol 1:4, 2014. Pubmed reference: 26401321. DOI: 10.1186/2052-6687-1-4.
Published 2
Downs, L.M., Aguirre, G.D. : FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration. Adv Exp Med Biol 854:201-7, 2016. Pubmed reference: 26427412. DOI: 10.1007/978-3-319-17121-0_27.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Golden Retriever
Breed-specific 1
Golden Retrievers
Breed-specific 1 Details
Publication demonstrates strong association between mutation and disease in Golden retrievers. No funtional evidence presented. Downs et al., (2014) A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genetics and Epidemiology, 1,
Breed-specific 2
Australian Labradoodle, Goldendoodle
Breed-specific 2 Details
Unpublished. But given Goldendoodles and Labradoodles have Golden Retriever and/or Labrador Retriever ancestry it is not unreasonable to screen these cross-breeds for this mutation.
Breed-specific 3
Labrador Retriever
Breed-specific details 3
Anecdotal (unpublished research) evidence for a purebred Labrador Retriever with PRA being homozygous for this mutation.
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
TTC8
Mutation
c.699delA
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Golden Retriever 2
Gene Name
TTC8
Mutation
c.699delA
Animal Genetics Laboratory, SLU
GTP
GTP Name
Animal Genetics Laboratory SLU
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Golden Retriever 2
Gene Name
TTC8
Mutation
c.699delA
Nature of test
mutation test
FCI Number
111
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
TTC8
Mutation
c.699delA
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Golden Retriever 2
Gene Name
TTC8
Mutation
c.699delA
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
TTC8
Mutation
c.699delA
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
TTC8
Mutation
c.699delA
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Golden Retriever 2
Gene Name
TTC8
Mutation
c.699delA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Downs, L.M., Aguirre, G.D. : FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration. Adv Exp Med Biol 854:201-7, 2016. Pubmed reference: 26427412. DOI: 10.10
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
111
GTP Breed
Golden Retriever
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Golden Retriever 2
Gene Name
TTC8
Mutation
c.699delA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Downs, L.M., Aguirre, G.D. : FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration. Adv Exp Med Biol 854:201-7, 2016. Pubmed reference: 26427412. DOI: 10.10
Inheritance
AR
FCI Number
111
GTP Breed
Golden Retriever
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
TTC8
Mutation
c.699delA
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
GR-PRA2
Gene Name
TTC8
Mutation
c.669delA
Mutation Comment
g.60090186del
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Golden Retriever 2
Gene Name
TTC8
Mutation
c.699delA
GTP- or Breed-Specific Publications
Downs, L.M., Bell, J.S., Freeman, J., Hartley, C., Hayward, L.J., Mellersh, C.S. : Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutati
Application in the Breed
Carriers may be bred to normal animals (N/rcd1 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/rcd1 x N/rcd1) nor of affected animals (rcd1/rcd1). Retina degenerates ( 3 weeks of age), leading to blindness (early adulthood)
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Golden Retriever 2
Gene Name
TTC8
Mutation
c.699delA
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
TTC8
Mutation
c.699delA
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
TTC8
Mutation
c.699delA
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Golden Retriever 2
Gene Name
TTC8
Mutation
c.699delA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Downs, L.M., Aguirre, G.D. : FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration. Adv Exp Med Biol 854:201-7, 2016. Pubmed reference: 26427412. DOI: 10.10
Inheritance
AR
FCI Number
111
GTP Breed
Golden Retriever
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Golden Retriever 2
Gene Name
TTC8
Mutation
c.699delA
Nature of test
mutation test
FCI Number
111
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
TTC8
Mutation
c.699delA
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
TTC8
Mutation
c.699delA
The Kennel Club
GTP
GTP Name
The Kennel Club
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Golden Retriever 2
Gene Name
TTC8
Mutation
c.699delA
This test is outsourced to:
Weatherby's
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Golden Retriever 2
Gene Name
TTC8
Mutation
c.699delA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Downs LM, Wallin-H??kansson B, Boursnell M, , Bergstróm T, Mellersh CS. 2014. A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genetics and Epidemiology 1:4
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
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
TTC8
Mutation
c.699delA
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
TTC8
Mutation
c.699delA
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Golden Retriever 2
Gene Name
TTC8
Mutation
c.699delA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
TTC8
Mutation
c.699delA
Canine Genetic Testing
GTP
GTP Name
Canine Genetic Testing
Breed
OMIA
Gene Name
TTC8
Mutation
c.699delA
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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