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Achromatopsia 2
Breed: German Shepherd Dog/ Double coat
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these 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
Achromatopsia 2
OMIA
1481
Gene Name
CNGB3
Mutation
c.1270C>T
Mutation 2
c.1931_1933delTGG
Mutation 3
p.R424W
Test Type
Genetic Disease/Disorder
Details
Day Blindness also known as Achromatopsia , or color blindness, is characterized by cone photoreceptor dysfunction, causing severely reduced or complete vision loss during daylight hours. Dogs may also show signs of avoiding bright light or distress in bright light (photophobia). The disease is present at birth (i.e. it is congenital) and clinical signs show when dogs are approximately 8-10 weeks of age.
Details 2
Day Blindness in the Labrador Retriever also known as Achromatopsia , or color blindness, is characterized by cone photoreceptor dysfunction, severely reduced or complete vision loss during daylight hours, and photophobia. The disease is present at birth (i.e. it is congenital) and is manifested clinically when dogs are approximately 8-10 weeks of age.
Published
Tanaka, N., Dutrow, E.V., Miyadera, K., Delemotte, L., MacDermaid, C.M., Reinstein, S.L., Crumley, W.R., Dixon, C.J., Casal, M.L., Klein, M.L., Aguirre, G.D., Tanaka, J.C., Guziewicz, K.E. : Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment. PLoS One 10:e0138943, 2015. Pubmed reference: 26407004. DOI: 10.1371/journal.pone.0138943. Edit History
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
German Shepherd, Labrador Retriever
HSP Test-Specific Data
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Day Blindness, Cone Degeneration, Hemaralopia
Gene Name
CNGA3
Mutation
c.1270C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Tanaka, N., Dutrow, E.V., Miyadera, K., Delemotte, L., MacDermaid, C.M., Reinstein, S.L., Crumley, W.R., Dixon, C.J., Casal, M.L., Klein, M.L., Aguirre, G.D., Tanaka, J.C., Guziewicz, K.E. : Canine
Application in the Breed
Carriers may be bred to normal animals (N/achm2 x N/N) . Offspring should be tested before breeding .No breeding of two carriers (N/achm2 x N/achm2) nor of affected animals (achm2/achm2). Day-blindness in bright light, normal vision in dim light.
Inheritance
AR
FCI Number
166
GTP Breed
German shepherd dog/ Double coat
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CNGB3
Mutation
c.1270C>T; c.1931_1933delTGG; p.R424W
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
CNGB3
Mutation
c.1270C>T; c.1931_1933delTGG; p.R424W
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CNGB3
Mutation
c.1270C>T; c.1931_1933delTGG; p.R424W
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
CNGB3
Mutation
c.1270C>T; c.1931_1933delTGG; p.R424W
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
Day Blindness, Cone Degeneration, Hemaralopia
Gene Name
CNGB3
Mutation
c.1270C>T; c.1931_1933delTGG; p.R424W
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
CNGA3
Mutation
c.1270C>T;p.R424W
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
CNGB3
Mutation
c.1270C>T; c.1931_1933delTGG; p.R424W
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
CNGB3
Mutation
c.1270C>T; c.1931_1933delTGG; p.R424W
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
CNGB3
Mutation
c.1270C>T; c.1931_1933delTGG; p.R424W
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
CNGB3
Mutation
c.1270C>T; c.1931_1933delTGG; p.R424W
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Day Blindness, Cone Degeneration, Hemaralopia
Gene Name
CNGB3
Mutation
c.1270C>T; c.1931_1933delTGG
Nature of test
mutation test
FCI Number
166
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Day Blindness, Cone Degeneration, Hemaralopia
Gene Name
CNGA3
Mutation
c.1270C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Tanaka, N., Dutrow, E.V., Miyadera, K., Delemotte, L., MacDermaid, C.M., Reinstein, S.L., Crumley, W.R., Dixon, C.J., Casal, M.L., Klein, M.L., Aguirre, G.D., Tanaka, J.C., Guziewicz, K.E. : Canine
Application in the Breed
Carriers may be bred to normal animals (N/achm2 x N/N) . Offspring should be tested before breeding .No breeding of two carriers (N/achm2 x N/achm2) nor of affected animals (achm2/achm2). Day-blindness in bright light, normal vision in dim light.
Inheritance
AR
FCI Number
166
GTP Breed
German shepherd dog/ Double coat
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
CNGB3
Mutation
c.1270C>T; c.1931_1933delTGG; p.R424W
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
CNGA3
Mutation
c.1270C>T
Mutation Comment
g.44234861C>T
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
CNGB3
Mutation
c.1270C>T; c.1931_1933delTGG; p.R424W
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