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
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
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
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
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
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C
Zoolyx
GTP
GTP Name
Zoolyx
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
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C
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
Progènes-ADN
GTP
GTP Name
Progenes ADN
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
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
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C
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
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C
INNO
GTP
GTP Name
INNO
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
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
SAG
Mutation
c.1216T>C