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Progressive Retinal Atrophy
Breed: Basenji
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Progressive Retinal Atrophy
OMIA
1876
Gene Name
SAG
Mutation
c.1216T>C
Test Type
Genetic Disease/Disorder
Details
Retina cells are lost slowly, with intial signs of problems seeing in dim light. May progress slowly to complete blindness.
Details 2
This particular form of PRA was first mentioned by Goldstein et al. (2006), whoconcluded clinical signs are very similar to Progressive rod-cone degeneration (prcd) (OMIA 001298-9615) in a wide range of breeds, the Basenji disorder is not allelic to prcd.
Patents/ Licences
Patent: OptiGen - US, CA, Europe. (please note that patent and licensing laws and coverage vary by country)
Published
Goldstein, O., Zangerl, B., Pearce-Kelling, S., Sidjanin, D.J., Kijas, J.W., Felix, J., Acland, G.M., Aguirre, G.D. : Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome. Genomics 88:541-50, 2006. Pubmed reference: 16859891. DOI: 10.1016/j.ygeno.2006.05.013
Published 2
Goldstein, O., Jordan, J.A., Aguirre, G.D., Acland, G.M. : A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. Mol Vis 19:1871-84, 2013. Pubmed reference: 24019744.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Basenji
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - adult onset
Gene Name
SAG
Mutation
c.1216T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Goldstein, O., Jordan, J.A., Aguirre, G.D., Acland, G.M. : A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. Mol Vis 19:1871-84, 2013. Pubmed
Application in the Breed
Carriers may be bred to normal animals (N/pra x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pra x N/pra) nor of affected animals (pra/pra). Retina cells are lost slowly : Problems seeing in dim light. Rarely complete blindness.
Inheritance
AR
FCI Number
43
GTP Breed
Basenji
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - adult onset
Gene Name
SAG
Mutation
c.1216T>C
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
43
GTP Breed
Basenji
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - adult onset
Gene Name
SAG
Mutation
c.1216T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Goldstein, O., Jordan, J.A., Aguirre, G.D., Acland, G.M. : A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. Mol Vis 19:1871-84, 2013. Pubmed
Application in the Breed
Carriers may be bred to normal animals (N/pra x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pra x N/pra) nor of affected animals (pra/pra). Retina cells are lost slowly : Problems seeing in dim light. Rarely complete blindness.
Inheritance
AR
FCI Number
43
GTP Breed
Basenji
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - adult onset
Gene Name
SAG
Mutation
c.1216T>C
Mutation Comment
g.44843440T>C
Nature of test
mutation test
FCI Number
43
GTP Breed
Basenji
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - adult onset
Gene Name
SAG
Mutation
c.1216T>C
Nature of test
mutation test
FCI Number
43
GTP Breed
Basenji
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - adult onset
Gene Name
SAG
Mutation
c.1216T>C
Nature of test
mutation test
FCI Number
43
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - adult onset
Gene Name
SAG
Mutation
c.1216T>C
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - adult onset
Gene Name
SAG
Mutation
c.1216T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Goldstein, O., Jordan, J.A., Aguirre, G.D., Acland, G.M. : A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. Mol Vis 19:1871-84, 2013. Pubmed
Application in the Breed
Carriers may be bred to normal animals (N/pra x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pra x N/pra) nor of affected animals (pra/pra). Retina cells are lost slowly : Problems seeing in dim light. Rarely complete blindness.
Inheritance
AR
FCI Number
43
GTP Breed
Basenji
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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