Donate
Progressive Retinal Atrophy rcd2 (PRA-rcd2)
Breed: Collie Smooth
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
BioBank AS
GTP
GTP Name
BioBank AS
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
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
RCD2
Mutation
22bp insertion in exon 4
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, Rod-Cone Dysplasia 2
Gene Name
RD3
Mutation
22bp insertion in exon 4
Nature of test
mutation test
FCI Number
296
GTP Breed
Collie Smooth
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
CMSCH
GTP
GTP Name
CMSCH
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
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
RD3
Mutation
22 bp insertion in exon 4
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
RCD2
Mutation
22bp insertion in exon 4
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
RCD2
Mutation
22bp insertion in exon 4
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
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
FCI Number
296
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
RCD2
Mutation
22bp insertion in exon 4
-
HGTD Quick Search
-
The portal for Genetic Testing Providers (labs); genetic tests, and tests by breed: as well as information on quality indicators and genetic counseling resources.
GOAL: Robust genetic testing supporting health improvements & a sustainable future for healthy dogs. -
HGTD Database Resources
How to use the HGTD
Using HGTD - YouTube Videos
HGTD Quality Indicators
Acronyms - Mode of Inheritance♦ 2020-New What is a Relevance Rating?
FAQs
Answers to frequently asked questions about the HGTD
Accreditation Basics
This brief overview may help you identify what types of accreditation are important to you, when choosing your genetic test provider.
Accreditation and Industry Standards
List of organizations throughout the world that are involved in matters of accreditation and establishing industry standards.
Choosing a Genetic Test Provider
Choosing a genetic test provider can be daunting. This short article helps you to consider what is important to you, and your dogs, in finding the right test provider for you. -
The HGTD's genetic counselling resources index provides access to basic introductory articles on genetics, articles on application of genetics in breed health management, and advanced work in technical genetics research. Breed-specific information is also available in our Pedigreed Dogs Database.
