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Progressive Retinal Atrophy rcd2 (PRA-rcd2)
Breed: Sloughi
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Progressive Retinal Atrophy rcd2 (PRA-rcd2)
OMIA
1260
Gene Name
RD3
Gene Name 2
RCD2
Mutation
22 bp insertion in exon 4
Test Type
Genetic Disease/Disorder
Details
PRA rcd2 is a disease of the retina. All forms of rcd are characterised by the initial loss of rods, the retinal cells that operate during night vision, followed by the degeneration of cones, the cells in the retina that are responsible for vision in bright light/daylight. The disease effects of rcd2 are an early onset and may be detected by an opthamologist when 6 weeks old. Vision will be lost progressively, with complete blindness by 12 months.
Details 2
PRA rcd2 is a disease of the retina. All forms of rcd are characterised by the initial loss of rods, the retinal cells that operate during night vision, followed by the degeneration of cones, the cells in the retina that are responsible for vision in bright light/daylight. The disease effects of rcd2 are an early onset and may be detected by an opthamologist when 6 weeks old. Vision will be lost progressively, with complete blindness by 12 months.
Published
Kukekova, AV., Nelson, J., Kuchtey, RW., Lowe, JK., Johnson, JL., Ostrander, EA., Aguirre, GD., Acland, GM. : Linkage mapping of canine rod cone dysplasia type 2 (rcd2) to CFA7, the canine orthologue of human 1q32. Invest Ophthalmol Vis Sci 47:1210-5, 2006. Pubmed reference: 16505060. DOI: 10.1167/iovs.05-0861.
Published 2
Kukekova, AV., Goldstein, O., Johnson, JL., Richardson, MA., Pearce-Kelling, SE., Swaroop, A., Friedman, JS., Aguirre, GD., Acland, GM. : Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3. Mamm Genome 20:109-23, 2009. Pubmed reference: 19130129. DOI: 10.1007/s00335-008-9163-4.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Rough collie
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
RCD2
Mutation
22bp insertion in exon 4
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
RCD2
Mutation
22bp insertion in exon 4
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
RCD2
Mutation
22bp insertion in exon 4
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
RCD2
Mutation
22bp insertion in exon 4
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Rod-Cone Dysplasia 2
Gene Name
RCD2
Mutation
22bp insertion in exon 4
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kukekova, AV., Goldstein, O., Johnson, JL., Richardson, MA., Pearce-Kelling, SE., Swaroop, A., Friedman, JS., Aguirre, GD., Acland, GM. : Canine RD3 mutation establishes rod-cone dysplasia type 2 (r
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
This test is outsourced to:
Orivet
FCI Number
188
GTP Breed
Sloughi
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
RCD2
Mutation
22bp insertion in exon 4
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
RCD2
Mutation
22bp insertion in exon 4
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Rod-Cone Dysplasia 2
Gene Name
RCD2
Mutation
22bp insertion in exon 4
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kukekova, AV., Goldstein, O., Johnson, JL., Richardson, MA., Pearce-Kelling, SE., Swaroop, A., Friedman, JS., Aguirre, GD., Acland, GM. : Canine RD3 mutation establishes rod-cone dysplasia type 2 (r
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
188
GTP Breed
Sloughi
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
RCD2
Mutation
22bp insertion in exon 4
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
RCD2
Mutation
22bp insertion in exon 4
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
RCD2
Mutation
22bp insertion in exon 4
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
RCD2
Mutation
22bp insertion in exon 4
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