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Progressive Retinal Atrophy rcd1a (PRA rcd1a)
Breed: Sloughi
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
GTPs
General
Disease Name
Progressive Retinal Atrophy rcd1a (PRA rcd1a)
OMIA
1669
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Mutation 2
c.2448_2449insTGAAGTCC
Test Type
Genetic Disease/Disorder
Details
PRA rcd1a belongs to a family of rod-cone dysplasia diseases, in this case, a late-onset form. First noticeable signs of vision loss usually evident at 2 to 3 years of age. The inheritance pattern of this disease is autosomal recessive.
Details 2
PRA rcd1a belongs to a family of rod-cone dysplasia diseases, in this case, a late-onset form. First noticeable signs of vision loss usually evident at 2 to 3 years of age. The mutation associated with the rcd1a-PRA disease has been identified in the PDE6B gene (1).The inheritance pattern of this disease is autosomal recessive.
Published
Dekomien, G., Runte, M., Gödde, R., Epplen, J.T.: Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet 90:261-7, 2000. Pubmed reference: 11124530.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Sloughi
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-1a
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Runte, M., Gódde, R., Epplen, J.T.: Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet 90:261-7, 2000.
Application in the Breed
Carriers may be bred to normal animals (N/rcd1 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/rcd1 x N/rcd1) nor of affected animals (rcd1/rcd1). Retina degenerates ( 3 weeks of age), leading to blindness (early adulthood)
Inheritance
AR
FCI Number
188
GTP Breed
Sloughi
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-1a
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Runte, M., Gódde, R., Epplen, J.T.: Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet 90:261-7, 2000.
Application in the Breed
Carriers may be bred to normal animals (N/rcd1 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/rcd1 x N/rcd1) nor of affected animals (rcd1/rcd1). Retina degenerates ( 3 weeks of age), leading to blindness (early adulthood)
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
188
GTP Breed
Sloughi
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-1a
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Runte, M., Gódde, R., Epplen, J.T.: Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet 90:261-7, 2000.
Application in the Breed
Carriers may be bred to normal animals (N/rcd1 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/rcd1 x N/rcd1) nor of affected animals (rcd1/rcd1). Retina degenerates ( 3 weeks of age), leading to blindness (early adulthood)
Inheritance
AR
FCI Number
188
GTP Breed
Sloughi
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
PRA-rcd1
Gene Name
PDE6B
Mutation
c.2448_2449insTGAAGTCC
Mutation Comment
g.91747685_91747686insACTTCAGG
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-1a
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Runte, M., Gódde, R., Epplen, J.T.: Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet 90:261-7, 2000.
Application in the Breed
Carriers may be bred to normal animals (N/rcd1 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/rcd1 x N/rcd1) nor of affected animals (rcd1/rcd1). Retina degenerates ( 3 weeks of age), leading to blindness (early adulthood)
Inheritance
AR
FCI Number
188
GTP Breed
Sloughi
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-1a
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Runte, M., Gódde, R., Epplen, J.T.: Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet 90:261-7, 2000.
Application in the Breed
Carriers may be bred to normal animals (N/rcd1 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/rcd1 x N/rcd1) nor of affected animals (rcd1/rcd1). Retina degenerates ( 3 weeks of age), leading to blindness (early adulthood)
Inheritance
AR
FCI Number
188
GTP Breed
Sloughi
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-1a
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Nature of test
mutation test
FCI Number
188
GTP Breed
Sloughi
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-1a
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Runte, M., Gódde, R., Epplen, J.T.: Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet 90:261-7, 2000.
Application in the Breed
Carriers may be bred to normal animals (N/rcd1 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/rcd1 x N/rcd1) nor of affected animals (rcd1/rcd1). Retina degenerates ( 3 weeks of age), leading to blindness (early adulthood)
Inheritance
AR
FCI Number
188
GTP Breed
Sloughi
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, rcd-1a
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Dekomien, G., Runte, M., Gódde, R., Epplen, J.T.: Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet 90:261-7, 2000.
Application in the Breed
Carriers may be bred to normal animals (N/rcd1 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/rcd1 x N/rcd1) nor of affected animals (rcd1/rcd1). Retina degenerates ( 3 weeks of age), leading to blindness (early adulthood)
Inheritance
AR
FCI Number
188
GTP Breed
Sloughi
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
PDE6B
Mutation
c.2447insTGAAGTCC
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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