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Progressive Retinal Atrophy - CNGB1

Breed: Continental Toy Spaniel Papillon/ with erect ears

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 for these breeds

General

Disease Name
Progressive Retinal Atrophy - CNGB1
Mutation
c.2685delA2687_2688insTAGCTA
Mutation 2
c.2685delA
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.

Breed Specific Data

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA

Anicom

GTP
GTP Name
Anicom
GTP Disease Name
Progressive Retinal Atrophy, PRA1
Gene Name
CNGB1
Mutation
c.2687_2688insTAGCTA

Antagene

GTP
GTP Name
Antagene
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 Papillon/ with erect ears

BioBank AS

GTP Name
BioBank AS
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
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 Papillon/ with erect ears

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA

CMSCH

GTP
GTP Name
CMSCH
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA

Embark

GTP
GTP Name
Embark
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 Papillon/ with erect ears

EVG Diagnostics

GTP Name
EVG Molecular Diagnostics
Gene Name
CNGB1
Mutation
c.2685delA2687_2688insTAGCTA
Nature of test
mutation test
GTP- or Breed-Specific Publications
PLoS One. 2013; 8(8): e72229.

Genomia s.r.o

GTP Name
Genomia s.r.o
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

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
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 Papillon/ with erect ears

GenSol Diagnostics

GTP Name
GenSol Diagnostics
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) .

INNO

GTP
GTP Name
INNO
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA

Paw Print Genetics

GTP Name
Paw Print Genetics
GTP Disease Name
Progressive Retinal Atrophy, PRA1
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
Nature of test
mutation test
FCI Number
77

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA

VetGen LLC

GTP Name
VetGen LLC
Gene Name
CNGB1
Mutation
c.2685delA2687_2688insTAGCTA

VHL Genetics

GTP Name
VHL Genetics
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
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 Papillon/ with erect ears

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
CNGB1
Mutation
c.2685delA; c.2687_2688insTAGCTA
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