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Progressive Retinal Atrophy crd
Breed: English Springer Spaniel
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
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
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Animal Genetics Inc
GTP
GTP Name
Animal Genetics Inc
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
Nature of test
mutation test
FCI Number
125
GTP Breed
English Springer Spaniel
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-4/cord 1
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Nature of test
mutation test
FCI Number
125
GTP Breed
English Springer Spaniel
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
AKNA
Mutation
180-bp deletion in exon/intron 5
Nature of test
mutation test
FCI Number
125
GTP Breed
English Springer Spaniel
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
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
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-4/cord 1
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Nature of test
mutation test
FCI Number
125
GTP Breed
English Springer Spaniel
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
Certagen GmbH
GTP
GTP Name
Certagen GmbH
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
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
NPHP4
Mutation
180-bp deletion in exon/intron 5
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