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Progressive Retinal Atrophy crd
Breed: Standard Dachshund/ wirehaired
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 in this breed
GTPs
General
Disease Name
Progressive Retinal Atrophy crd
OMIA
1455
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Test Type
Genetic Disease/Disorder
Details
Cone-rod dystrophy (CRD) is a type of PRA which first affects the cones in the retina, so initially results in day blindness for sufferers, and then the rods begin degenerating secondarily. Age of initial CRD (NHPH4) onset for affected dogs varied between 10 months to 3 years, with complete retinal atrophy observed by 6 years old.
Details 2
Clinical diagnosis should be made by a veterinary ophthalmologist using the methods of indirect ophthalmoscopy and/or electroretinography, although this can only observe affected dogs after symptoms have developed and will never detect the symptomless carriers. Cone-rod dystrophy (CRD) is a type of PRA which first affects the cones in the retina, so initially results in day blindness for sufferers, and then the rods begin degenerating secondarily.The NPHP4 gene was found to be shorter in all of the clinically PRA affected dogs. The age of initial CRD (NHPH4) onset for affected dogs varied between 10 months to 3 years, with complete retinal atrophy observed by 6 years old.
Published
Wiik, AC., Thoresen, SI., Wade, C., Lindblad-Toh, K., Lingaas, F. : A population study of a mutation allele associated with cone-rod dystrophy in the standard wire-haired dachshund. Anim Genet 40:572-4, 2009. Pubmed reference: 19392817. DOI: 10.1111/j.1365-2052.2009.01877.x.
Body/System/Process
Eye
OMIA Url
Inheritance
AD
Breed Specific Info
Researched Breeds
Standard Wire-haired Dachshund, Miniature Wire-haired Dachshund
HSP Test-Specific Data
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, crd SWD
GTP Disease Synonym
Cone Rod Dystrophy, PRA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wiik, AC., Thoresen, SI., Wade, C., Lindblad-Toh, K., Lingaas, F. : A population study of a mutation allele associated with cone-rod dystrophy in the standard wire-haired dachshund. Anim Genet 40:572-
Application in the Breed
Carriers may be bred to normal animals (N/pra x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pra x N/pra) nor of affected animals (pra/pra). Retina cells are lost slowly : Problems seeing in dim light. Rarely complete blindness.
Inheritance
AD
FCI Number
148
GTP Breed
Standard Dachshund/ Wirehaired
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, crd SWD
GTP Disease Synonym
Progressive Retinal Atrophy, crd-4/cord 1
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, crd SWD
GTP Disease Synonym
Cone-Rod Dystrophy 1 (crd1)
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wiik, AC., Thoresen, SI., Wade, C., Lindblad-Toh, K., Lingaas, F. : A population study of a mutation allele associated with cone-rod dystrophy in the standard wire-haired dachshund. Anim Genet 40:572-
Application in the Breed
Carriers may be bred to normal animals (N/pra x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pra x N/pra) nor of affected animals (pra/pra). Retina cells are lost slowly : Problems seeing in dim light. Rarely complete blindness.
Inheritance
AD
FCI Number
148
GTP Breed
Standard Dachshund/ Wirehaired
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Orthopedic Foundation for Animals
GTP
GTP Name
Orthopedic Foundation for Animals
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, crd SWD
GTP Disease Synonym
Progressive Retinal Atrophy, crd-4/cord 1
Gene Name
ATP2A2
Mutation
180-bp deletion in exon/intron 5
Nature of test
mutation test
FCI Number
148
GTP Breed
Standard Dachshund/ Wirehaired
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, crd SWD
GTP Disease Synonym
Progressive Retinal Atrophy, crd SWD
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Nature of test
mutation test
FCI Number
148
GTP Breed
Standard Dachshund/ Wirehaired
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, crd SWD
GTP Disease Synonym
Progressive Retinal Atrophy, crd SWD
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wiik, AC., Thoresen, SI., Wade, C., Lindblad-Toh, K., Lingaas, F. : A population study of a mutation allele associated with cone-rod dystrophy in the standard wire-haired dachshund. Anim Genet 40:572-
Application in the Breed
Carriers may be bred to normal animals (N/pra x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pra x N/pra) nor of affected animals (pra/pra). Retina cells are lost slowly : Problems seeing in dim light. Rarely complete blindness.
Inheritance
AD
FCI Number
148
GTP Breed
Standard Dachshund/ Wirehaired
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, crd SWD
GTP Disease Synonym
Cone-Rod Dystrophy 1 (crd1)
Gene Name
NPHP4
Mutation
c.479_526+130del
Mutation Comment
g.59912991_59913168del
Nature of test
mutation test
FCI Number
148
GTP Breed
Standard Dachshund/ Wirehaired
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
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