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Progressive Retinal Atrophy rcd1 (PRA-rcd1)

Breed: Irish red and white Setter

Generic Phene Data

General

Disease Name
Progressive Retinal Atrophy rcd1 (PRA-rcd1)
Disease Name 2
Rod-Cone Dysplasia 1 (rcd1)
OMIA
882
Gene Name
PDE6B
Mutation
c.2420G>A
OMIM
613801
Disease Code
RCD1
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
rcd1-PRA
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
Inheritance
AR
Gene Name Text
phosphodiesterase 6B, cGMP-specific, rod, beta

Breed Specific Data

Animal Health Trust (UK)

Link to GTP
GTP Disease Name
Progressive Retinal Atrophy, rcd-1
Gene Name
PDE6B
Mutation
c.2420G>A
Nature of test
mutation test

CAG GmbH Center for Animal Genetics

Link to GTP
GTP Disease Name
Progressive Retinal Atrophy, rcd-1
Gene Name
PDE6B
Mutation
c.2420G>A
Nature of test
mutation test

Genoscoper Laboratories Oy

Link to GTP
GTP Disease Name
Progressive Retinal Atrophy, rcd-1
Gene Name
PDE6B
Mutation
c.2420G>A
Nature of test
mutation test

OptiGen

Link to GTP
GTP
GTP Disease Name
Progressive Retinal Atrophy, rcd-1
Gene Name
PDE6B
Mutation
c.2420G>A
Nature of test
mutation test

Paw Print Genetics

Link to GTP
GTP Disease Name
Progressive Retinal Atrophy, rcd-1
Gene Name
PDE6B
Mutation
c.2420G>A
Nature of test
mutation test

Veterinary Genetics Laboratory

Link to GTP
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

Wisdom Health (formerly Mars Veterinary)

Link to GTP
GTP Disease Name
Progressive Retinal Atrophy, rcd-1
Gene Name
PDE6B
Mutation
c.2420G>A
Nature of test
mutation test

Genomia s.r.o

Link to GTP
GTP Disease Name
Progressive Retinal Atrophy, rcd-1
Gene Name
PDE6B
Mutation
c.2420G>A
Nature of test
mutation test

EVG Diagnostics

Link to GTP
Gene Name
PDE6B
Mutation
c.2420G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Proc Natl Acad Sci U S A. 1993 May 1; 90(9): 3968?3972.

GenSol Diagnostics

Link to GTP
GTP Disease Name
Progressive Retinal Atrophy, rcd-1
Gene Name
PDE6B
Mutation
c.2420G>A

GenSol Diagnostics

Link to GTP
GTP Disease Name
Progressive Retinal Atrophy, rcd-1
Gene Name
PDE6B
Mutation
c.2420G>A
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