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Achromatopsia 2
Breed: Australian Labradoodle
Generic Phene Data
Breeds
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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
GTPs
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
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
CNGA3
Mutation
c.1931_1933del
Mutation Comment
g.44234198_44234200del
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