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Progressive Retinal Atrophy - CNGB1
Breed: Continental Toy Spaniel Papillon/ with erect 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
Inheritance
AR
Breed Specific Info
Researched Breeds
Papillon
HSP Test-Specific Data
Agrotis S.r.l.
Anicom Specialty Medical Institute Inc.
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 Papillon/ with erect ears
BioBank AS
Certagen GmbH
CMSCH
Embark
GTP
GTP Name
Embark
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 Papillon/ with erect ears
EVG Diagnostics
Genomia s.r.o
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) .
INNO
Laboratorios Labocor S.L.
Paw Print Genetics
PharmaDNA
Progènes-ADN
VetGen LLC
VHL Genetics/ Combibreed
Weatherbys Scientific
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 Papillon/ with erect ears
