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Search Term: Achromatopsia 2
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
Disease Name
Achromatopsia 2
Disease Name 2
Colour-blindness/Achromatopsia 2
OMIA
1481
Gene Name
CNGA3
Mutation
c.1270C>T
Mutation 2
c.1931_1933delTGG
Mutation 3
p.R424W
OMIM
216900
Disease Code
ACHM2
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
Gene Name Text
cyclic nucleotide gated channel alpha 3
Researched Breeds
German Shepherd, Labrador Retriever
GTPs
Heidelberg, BW
DE
DE
Generatio GmbH Center for Animal Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Out Sourced Testing
Boston, MA
US
US
Embark
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/LAB Out Sourced Testing Any Patents Held Sponsor
Plzen
CZ
CZ
Genomia s.r.o
HGTD Leadership Sponsor In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Participant
Bad Kissingen, Bavaria
DE
DE
Laboklin Gmbh & Co. KG
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Participant Any Patents Held
Wageningen
NL
NL
VHL Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Out Sourced Testing
Naas, Co. Kildare
IE
IE
Weatherbys Scientific
In House Testing ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Supporter
Vancouver, Washington
US
US
Wisdom Panel - Kinship
HGTD Leadership Sponsor Test Discovery- GTP Other Recognized Accreditation Out Sourced Testing Sponsor-
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