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Progressive Retinal Atrophy generalized (gPRA)

Breed: Dutch Schapendoes

Generic Phene Data

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 generalized (gPRA)
Mutation
c.521_522InsA
Test Type
Genetic Disease/Disorder
Details
gPRA in Schapendoes is characterized by late onset and slow progression. Affected Schapendoes dogs appear normal when young, but develop gPRA between 2-5 years. Early in the disease, affected dogs are night-blind, progressing to full blindness within 2 years.
Details 2
gPRA is transmitted in an AR manner. gPRA in Schapendoes is characterized by late onset and slow progression. Affected Schapendoes dogs appear normal when young, but develop gPRA at an age of onset between 2-5 years. Early in the disease, affected dogs are night-blind, lacking the ability to adjust their vision to dim light; later, their daytime vision also fails. This process of complete photoreceptor degeneration takes up to 2 years. (Lippmann et al, 2007)
Published
Lippmann, T., Jonkisz, A., Dobosz, T., Petrasch-Parwez, E., Epplen, JT., Dekomien, G. : Haplotype-defined linkage region for gPRA in Schapendoes dogs. Mol Vis 13:174-80, 2007. Pubmed reference: 17327822.

Breed Specific Info

Researched Breeds
Schapendoes

Breed Specific Data

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
GTP Disease Name
Progressive Retinal Atrophy
GTP Disease Synonym
Progressive Retinal Atrophy ? generalized (gPRA)
Gene Name
CCDC66
Mutation
c.521_522InsA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Vollrath, C., Petrasch-Parwez, E., Boev??, M.H., Akkad, D.A., Gerding, W.M., Epplen, J.T. : Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene
Application in the Breed
Carriers may be bred to normal animals (N/gpra x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gpra x N/gpra) nor of affected animals (gpra/gpra). Problems seeing in dim light (2-5 years of age)- within 2 years full blindness
Inheritance
AR
FCI Number
313
GTP Breed
Dutch Schapendoes

DNA My Dog

GTP Name
DNA My Dog
GTP Disease Name
Progressive Retinal Atrophy
GTP Disease Synonym
Progressive Retinal Atrophy ? generalized (gPRA)
Gene Name
CCDC66
Mutation
c.521_522InsA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Vollrath, C., Petrasch-Parwez, E., Boev??, M.H., Akkad, D.A., Gerding, W.M., Epplen, J.T. : Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene
Application in the Breed
Carriers may be bred to normal animals (N/gpra x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gpra x N/gpra) nor of affected animals (gpra/gpra). Problems seeing in dim light (2-5 years of age)- within 2 years full blindness
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
313
GTP Breed
Dutch Schapendoes

Embark

GTP
GTP Name
Embark
GTP Disease Name
Progressive Retinal Atrophy
GTP Disease Synonym
Progressive Retinal Atrophy ? generalized (gPRA)
Gene Name
CCDC66
Mutation
c.521_522InsA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Vollrath, C., Petrasch-Parwez, E., Boev??, M.H., Akkad, D.A., Gerding, W.M., Epplen, J.T. : Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene
Application in the Breed
Carriers may be bred to normal animals (N/gpra x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gpra x N/gpra) nor of affected animals (gpra/gpra). Problems seeing in dim light (2-5 years of age)- within 2 years full blindness
Inheritance
AR
FCI Number
313
GTP Breed
Dutch Schapendoes

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
GTP Disease Name
Progressive Retinal Atrophy
GTP Disease Synonym
Progressive Retinal Atrophy ? generalized (gPRA)
Gene Name
CCDC66
Mutation
c.521_522InsA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Vollrath, C., Petrasch-Parwez, E., Boev??, M.H., Akkad, D.A., Gerding, W.M., Epplen, J.T. : Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene
Application in the Breed
Carriers may be bred to normal animals (N/gpra x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gpra x N/gpra) nor of affected animals (gpra/gpra). Problems seeing in dim light (2-5 years of age)- within 2 years full blindness
Inheritance
AR
FCI Number
313
GTP Breed
Dutch Schapendoes

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
GTP Disease Name
Progressive Retinal Atrophy
GTP Disease Synonym
Progressive Retinal Atrophy, Generalized
Gene Name
CCDC66
Mutation
c.521_522InsA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Vollrath, C., Petrasch-Parwez, E., Boev??, M.H., Akkad, D.A., Gerding, W.M., Epplen, J.T. : Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene
Application in the Breed
Carriers may be bred to normal animals (N/gpra x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gpra x N/gpra) nor of affected animals (gpra/gpra). Problems seeing in dim light (2-5 years of age)- within 2 years full blindness
Inheritance
AR
FCI Number
313
GTP Breed
Dutch Schapendoes

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
GTP Disease Name
Progressive Retinal Atrophy
GTP Disease Synonym
Progressive Retinal Atrophy ? generalized (gPRA)
Gene Name
CCDC66
Mutation
c.521_522InsA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Vollrath, C., Petrasch-Parwez, E., Boev??, M.H., Akkad, D.A., Gerding, W.M., Epplen, J.T. : Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene
Application in the Breed
Carriers may be bred to normal animals (N/gpra x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gpra x N/gpra) nor of affected animals (gpra/gpra). Problems seeing in dim light (2-5 years of age)- within 2 years full blindness
Inheritance
AR
FCI Number
313
GTP Breed
Dutch Schapendoes

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
GTP Disease Name
Progressive Retinal Atrophy
GTP Disease Synonym
Progressive Retinal Atrophy ? generalized (gPRA)
Gene Name
CCDC66
Mutation
c.521_522InsA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Vollrath, C., Petrasch-Parwez, E., Boev??, M.H., Akkad, D.A., Gerding, W.M., Epplen, J.T. : Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene
Application in the Breed
Carriers may be bred to normal animals (N/gpra x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/gpra x N/gpra) nor of affected animals (gpra/gpra). Problems seeing in dim light (2-5 years of age)- within 2 years full blindness
Inheritance
AR
FCI Number
313
GTP Breed
Dutch Schapendoes
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