Donate
Progressive Retinal Atrophy, CNGA1
Breed: Shetland Sheepdog
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Progressive Retinal Atrophy, CNGA1
OMIA
1977
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Test Type
Genetic Disease/Disorder
Details
PRA CNGA1 is one cause of early onset PRA, in Shelties that clinically appears the same as in other breeds. As in other forms of PRA, it starts as night-blindness, progressing to sight loss even in bright light, eventually leading to blindness. The average age of clinical diagnosis is reported to be 5 years, but there is some variation. It is known that there are other forms of PRA in Shelties, including ones that currently do not have tests.
Details 2
PRA CNGA1 is one cause of early onset PRA, in Shelties that clinically appears the same as in other breeds. As in other forms of PRA, it starts as night-blindness, progressing to sight loss even in bright light, eventually leading to blindness. The average age of clinical diagnosis is reported to be 5 years, but there is some variation. The breed suffers from at least one, and possibly more variants of PRA that are not yet identified, including unidentified mutations of Slow Progressing Retinopathy (SPR).
Published
Wiik, A.C., Ropstad, E.O., Ekesten, B., Karlstam, L., Wade, C.M., Lingaas, F. : Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet 46:515-21, 2015. Pubmed reference: 26202106. DOI: 10.1111/age.12323.
Published 2
Karlstam et al., A slowly progressive retinopathy in the Shetland Sheepdog. Vet Ophthalmol. 2011 Jul; 14(4):227-38.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Shetland Sheepdog
HSP Test-Specific Data
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - Shetland Sheepdog
GTP Disease Synonym
Progressive retinal atrophy, CNGA1-related
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wiik, A.C., Ropstad, E.O., Ekesten, B., Karlstam, L., Wade, C.M., Lingaas, F. : Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet 46:515-21
Inheritance
AR
FCI Number
88
GTP Breed
Shetland Sheepdog
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - Shetland Sheepdog
GTP Disease Synonym
Progressive retinal atrophy, CNGA1-related
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wiik, A.C., Ropstad, E.O., Ekesten, B., Karlstam, L., Wade, C.M., Lingaas, F. : Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet 46:515-21
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
88
GTP Breed
Shetland Sheepdog
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - Shetland Sheepdog
GTP Disease Synonym
Progressive retinal atrophy, CNGA1-related
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wiik, A.C., Ropstad, E.O., Ekesten, B., Karlstam, L., Wade, C.M., Lingaas, F. : Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet 46:515-21
Inheritance
AR
FCI Number
88
GTP Breed
Shetland Sheepdog
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
CNGA1
Mutation
c.1752_1755del
Mutation Comment
g.43831897_43831900del
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - Shetland Sheepdog
GTP Disease Synonym
Progressive retinal atrophy, CNGA1-related
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wiik, A.C., Ropstad, E.O., Ekesten, B., Karlstam, L., Wade, C.M., Lingaas, F. : Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet 46:515-21
Inheritance
AR
FCI Number
88
GTP Breed
Shetland Sheepdog
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - Shetland Sheepdog
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Nature of test
mutation test
FCI Number
88
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy - Shetland Sheepdog
GTP Disease Synonym
Progressive retinal atrophy, CNGA1-related
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
Nature of test
mutation test
FCI Number
88
GTP Breed
Shetland Sheepdog
Canine Genetic Testing
GTP
GTP Name
Canine Genetic Testing
Breed
OMIA
Gene Name
CNGA1
Mutation
c.1752_1755delAACT
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
-
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.
