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Achromatopsia 2

Breed: Labrador Retriever

Generic Phene Data

Breeds

Relevance Rating: There is some evidence or research available for these breeds

General

Disease Name
Achromatopsia 2
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

Breed Specific Info

Researched Breeds
German Shepherd, Labrador Retriever

Breed Specific Data

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
CNGB3
Mutation
c.1931_1933delTGG

BioBank AS

GTP Name
BioBank AS
Gene Name
CNGB3
Mutation
c.1931_1933delTGG

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
GTP Disease Name
Day Blindness, Cone Degeneration, Hemaralopia
Gene Name
CNGA3
Mutation
c.1931_1933delTGG
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
122
GTP Breed
Labrador Retriever

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
CNGB3
Mutation
c.1931_1933delTGG

CMSCH

GTP
GTP Name
CMSCH
Gene Name
CNGB3
Mutation
c.1931_1933delTGG

Embark

GTP
GTP Name
Embark
GTP Disease Name
Day Blindness, Cone Degeneration, Hemaralopia
Gene Name
CNGA3
Mutation
c.1931_1933delTGG
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
122
GTP Breed
Labrador Retriever

INNO

GTP
GTP Name
INNO
Gene Name
CNGB3
Mutation
c.1931_1933delTGG

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
CNGB3
Mutation
c.1931_1933delTGG

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
GTP Disease Name
Day Blindness, Cone Degeneration, Hemaralopia
Gene Name
CNGB3
Mutation
c.1931_1933delTGG; c.1931_1933delTGG
Nature of test
mutation test
FCI Number
122

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
CNGB3
Mutation
c.1931_1933delTGG

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
CNGB3
Mutation
c.1931_1933delTGG

VHL Genetics

GTP Name
VHL Genetics
Gene Name
CNGB3
Mutation
c.1931_1933delTGG

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
CNGB3
Mutation
c.1931_1933delTGG
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