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Progressive Retinal Atrophy rcd1 (PRA-rcd1)
Breed: Irish Red and White Setter
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 in this breed
General
Disease Name
Progressive Retinal Atrophy rcd1 (PRA-rcd1)
OMIA
882
Gene Name
PDE6B
Mutation
c.2420G>A
Test Type
Genetic Disease/Disorder
Details
PRA rcd1 is a disease of the retina. The retina starts to degenerate from 3 weeks of age. Affected pups begin showing signs of night-blindness by 6 weeks of age, and by 1-2 years of age most affected dogs are completely blind.
Details 2
PRA rcd1 is a disease of the retina. The retina starts to degenerate from 3 weeks of age. Affected pups begin showing signs of night-blindness by 6 weeks of age, and by 1-2 years of age most affected dogs are completely blind.
Published
Suber, M.L., Pittler, S.J., Qin, N., Wright, G.C., Holcombe, V., Lee, R.H., Craft, C.M., Lolley, R.N., Baehr, W., Hurwitz, R.L.: Irish Setter Dogs Affected with Rod/Cone Dysplasia Contain a Nonsense Mutation in the Rod cGMP Phosphodiesterase beta- Subunit Gene Proceedings of the National Academy of Sciences of the United States of America 90:3968-3972, 1993. Pubmed reference: 8387203
Published 2
Clements, P.J.M., Gregory, C.Y., Petersen-Jones, S.M., Sargan, D.R., Bhattacharya, S.S.: Confirmation of the rod cGMP phosphodiesterase beta subunit (PDE beta) nonsense mutation in affected rcd-1 Irish setters in the UK and development of a diagnostic test Current Eye Research 12:861-866, 1993. Pubmed reference: 8261797
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Irish Setter
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2420G>A
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2420G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2420G>A
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2420G>A
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2420G>A
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-1
Gene Name
PDE6B
Mutation
c.2420G>A
Mutation Comment
g.91747713C>T
Nature of test
mutation test
FCI Number
330
GTP Breed
Irish red and white Setter
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-1
Gene Name
PDE6B
Mutation
c.2420G>A
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2420G>A
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2420G>A
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-1
Gene Name
PDE6B
Mutation
c.2420G>A
Nature of test
mutation test
FCI Number
330
GTP Breed
Irish red and white Setter
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2420G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2420G>A
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-1
Gene Name
PDE6B
Mutation
c.2420G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
M L Suber, S J Pittler, N Qin, G C Wright, V Holcombe, R H Lee, C M Craft, R N Lolley, W Baehr, and R L Hurwitz. (1993) Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Pro
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)
Inheritance
AR
FCI Number
330
GTP Breed
Irish red and white Setter
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2420G>A
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-1
Gene Name
PDE6B
Mutation
c.2420G>A
Nature of test
mutation test
FCI Number
330
GTP Breed
Irish red and white Setter
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2420G>A
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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