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Progressive Retinal Atrophy rcd3 (PRA-rcd3)
Breed: German Spitz/ Pomeranian
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
General
Disease Name
Progressive Retinal Atrophy rcd3 (PRA-rcd3)
OMIA
1314
Gene Name
PDE6A
Mutation
c.1940delA
Test Type
Genetic Disease/Disorder
Details
PRA-rcd3 (Progressive Retinal Atrophy rod-cone degeneration 3) is an early-onset PRA mutation which causes progressive vision loss, and eventually blindness. Puppies may show signs of night-blindness by 6 weeks of age. By the age of 1-2 years most affected dogs are completely blind.
Details 2
PRA-rcd3 (Progressive Retinal Atrophy rod-cone degeneration 3) is an early-onset PRA mutation that causes bilateral degeneration of the retina which causes progressive vision loss, and eventually blindness. Puppies may show signs of night-blindness by 6 weeks of age. By the age of 1-2 years most affected dogs are completely blind.
Published
Petersen-Jones, S.M., Entz, D.D., Sargan, D.R. : CGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog Investigative Ophthalmology & Visual Science 40:1637-1644, 1999. Pubmed reference: 10393029.
Published 2
Petersen-Jones, S.M., Zhu, F.X. : Development and use of a polymerase chain reaction-based diagnostic test for the causal mutation of progressive retinal atrophy in Cardigan Welsh Corgis American Journal of Veterinary Research 61:844-846, 2000. Pubmed reference: 10895911.
Published 3
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Cardigan Welsh Corgi
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
PDE6A
Mutation
c.1940delA
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-3
Gene Name
PDE6A
Mutation
c.1940delA
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
PDE6A
Mutation
c.1940delA
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
PDE6A
Mutation
c.1940delA
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
PDE6A
Mutation
c.1940delA
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
PDE6A
Mutation
c.1940delA
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
PRA-rcd3
Gene Name
PDE6A
Mutation
c.1847del
Mutation Comment
g.59145362del
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-3
Gene Name
PDE6A
Mutation
c.1940delA
GTP- or Breed-Specific Publications
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubme
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)
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
PDE6A
Mutation
c.1940delA
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
PDE6A
Mutation
c.1940delA
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-3
Gene Name
PDE6A
Mutation
c.1940delA
Nature of test
mutation test
FCI Number
97
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
PDE6A
Mutation
c.1940delA
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
PDE6A
Mutation
c.1940delA
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
PDE6A
Mutation
c.1940delA
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-3
GTP Disease Synonym
Rod-Cone Dysplasia 3 (rcd3)
Gene Name
PDE6A
Mutation
c.1940delA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Miyadera, K., Acland, G.M., Aguirre, G.D. : Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubme
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
97
GTP Breed
German Spitz/ Pomeranian
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
PDE6A
Mutation
c.1940delA
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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