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Progressive Retinal Atrophy - CNGB1
Breed: Continental Toy Spaniel Phalène/ with hanging ears
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
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 for these breeds
GTPs
General
Disease Name
Progressive Retinal Atrophy - CNGB1
OMIA
830
Gene Name
CNGB1
Mutation
c.2685delA2687_2688insTAGCTA
Mutation 2
c.2685delA
Mutation 3
c.2687_2688insTAGCTA
Test Type
Genetic Disease/Disorder
Details
Progressive, leading to firstly night blindness, and later to blindness during the day
Details 2
Progressive, non-inflammatory degeneration or dysplasia of rods and cones or just of rods, leading to firstly night blindness, and later to blindness during the day
Published
Winkler, P.A., Ekenstedt, K.J., Occelli, L.M., Frattaroli, A.V., Bartoe, J.T., Venta, P.J., Petersen-Jones, S.M. : A Large Animal Model for CNGB1 Autosomal Recessive Retinitis Pigmentosa. PLoS One 8:e72229, 2013. Pubmed reference: 23977260. DOI: 10.1371/journal.pone.0072229.
Published 2
Ahonen, S.J., Arumilli, M., Lohi, H. : A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy. PLoS One 8:e72122, 2013. Pubmed reference: 24015210. DOI: 10.1371/journal.pone.0072122.
Published 3
Chew, T., Haase, B., Bathgate, R., Willet, C.E., Kaukonen, M.K., Mascord, L.J., Lohi, H.T., Wade, C.M. : A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. G3 (Bethesda) :, 2017. Pubmed reference: 28533336. DOI: 10.1534/g3.117.043109.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Papillon
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, PRA1
GTP Disease Synonym
Papillon Progressive retinal atrophy
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Chew, T., Haase, B., Bathgate, R., Willet, C.E., Kaukonen, M.K., Mascord, L.J., Lohi, H.T., Wade, C.M. : A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form o
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) .
Inheritance
AR
FCI Number
77
GTP Breed
Continental Toy Spaniel Phalène/ with hanging ears
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, PRA1
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
Nature of test
mutation test
FCI Number
77
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, PRA1
GTP Disease Synonym
Papillon Progressive retinal atrophy
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
Nature of test
mutation test
FCI Number
77
GTP Breed
Continental Toy Spaniel Phalène/ with hanging ears
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, PRA1
Gene Name
CNGB1
Mutation
c.2687_2688insTAGCTA
GTP- or Breed-Specific Publications
Chew, T., Haase, B., Bathgate, R., Willet, C.E., Kaukonen, M.K., Mascord, L.J., Lohi, H.T., Wade, C.M. : A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form o
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) .
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, PRA1
GTP Disease Synonym
Papillon Progressive retinal atrophy
Gene Name
CNGB1
Mutation
c.2387_2389delinsCTAGCTAC
Mutation Comment
g.58622673_58622675delinsCTAGCTAC
Nature of test
mutation test
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
CNGB1
Mutation
c.2687_2688insTAGCTA
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, PRA1
GTP Disease Synonym
Papillon Progressive retinal atrophy
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
77
GTP Breed
Continental Toy Spaniel Phalène/ with hanging ears
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, PRA1
GTP Disease Synonym
Papillon Progressive retinal atrophy
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Chew, T., Haase, B., Bathgate, R., Willet, C.E., Kaukonen, M.K., Mascord, L.J., Lohi, H.T., Wade, C.M. : A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form o
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) .
Inheritance
AR
FCI Number
77
GTP Breed
Continental Toy Spaniel Phalène/ with hanging ears
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
Progressive Retinal Atrophy, PRA1
Gene Name
CNGB1
Mutation
c.2687_2688insTAGCTA
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
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