Donate
Progressive Retinal Atrophy crd1 (PRA crd1)
Breed: American Bully
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 crd1 (PRA crd1)
OMIA
1674
Gene Name
PDE6B
Mutation
c.2404_2406del
Test Type
Genetic Disease/Disorder
Details
Cone-rod dystrophies are blinding disorders characterized by dysfunction and death of rod and cone photoreceptor cells. Visual impairment can be observed at less than one year of age with severe blindness by early adulthood.
Details 2
Visual impairment can be observed at less than one year of age with severe blindness by early adulthood. Hereditary retinal degenerations (HRD) are blinding disorders characterized by dysfunction and death of rod and cone photoreceptor cells. They are genetically and phenotypically heterogeneous. Very young dogs (less than 1-year old) were affected by severe photopic and scotopic visual impairment, which progressed to more severe blindness in early adulthood.
Published
Goldstein, O., Mezey, J.G., Schweitzer, P.A., Boyko, A.R., Gao, C., Bustamante, C.D., Jordan, J.A., Aguirre, G.D., Acland, G.M. : IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. Invest Ophthalmol Vis Sci 54:7005-19, 2013. Pubmed reference: 24045995. DOI: 10.1167/iovs.13-12915.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
American Staffordshire Terriers
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Cone Rod Dystrophy, PRA
Gene Name
PDE6B
Mutation
c.2404_2406del
Nature of test
mutation test
FCI Number
-20
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
Cone Rod Dystrophy, PRA
Gene Name
PDE6B
Mutation
c.2404_2406del
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Cone Rod Dystrophy, PRA
Gene Name
PDE6B
Mutation
c.2404_2406del
Nature of test
mutation test
FCI Number
-22
GTP Breed
American Bully
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2404_2406del
-
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.
Key Comment