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Achromatopsia (Cone Degeneration, Hemeralopia), AMAL
Breed: Miniature American Shepherd
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 for these breeds
General
Disease Name
Achromatopsia (Cone Degeneration, Hemeralopia), AMAL
OMIA
1365
Gene Name
CNGB3
Mutation
complete deletion
Test Type
Genetic Disease/Disorder
Details
Achromatopsia (AMAL form) can cause day-blindness, total colorblindness, and limited vision particularly with regards to shapes and details of objects. For some breeds with this form of achromatopsia, there may be a late-onset. Please note that there are several forms of this disease that have tests available.
Details 2
Achromatopsia is an autosomal recessive disease characterized by the loss of cone photoreceptor function that results in day-blindness, total colorblindness, and decreased central visual acuity. (Yeh et al., 2013)
Published
Sidjanin, D.J., Lowe, J.K., McElwee, J.L., Milne, B.S., Phippen, T.M., Sargan, D.R., Aguirre, G.D., Acland, G.M., Ostrander, E.A.: Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3 Human Molecular Genetics 11:1823-33, 2002. Pubmed reference: 12140185.
Published 2
Yeh, C.Y., Goldstein, O., Kukekova, A.V., Holley, D., Knollinger, A.M., Huson, H.J., Pearce-Kelling, S.E., Acland, G.M., Komáromy, A.M.: Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia. BMC Genet 14:27, 2013. Pubmed reference: 23601474. DOI: 10.1186/1471-2156-14-27.
Published 3
Komáromy, A.M., Rowlan, J.S., Corr, A.T., Reinstein, S.L., Boye, S.L., Cooper, A.E., Gonzalez, A., Levy, B., Wen, R., Hauswirth, W.W., Beltran, W.A., Aguirre, G.D.: Transient Photoreceptor Deconstruction by CNTF Enhances rAAV-Mediated Cone Functional Rescue in Late Stage CNGB3-Achromatopsia. Mol Ther :, 2013. Pubmed reference: 23568263. DOI: 10.1038/mt.2013.50.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Alaskan Malamute, Alaskan sled dog, Miniature Australian shepherd, Siberian Husky
HSP Test-Specific Data
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Cone Degeneration
GTP Disease Synonym
day blindness
Gene Name
CNGB3
Mutation
complete deletion
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
-50
GTP Breed
Miniature American Shepherd
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Cone Degeneration
Gene Name
CNGB3
Mutation
complete deletion
Nature of test
mutation test
This test is outsourced to:
Optigen
FCI Number
-50
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Cone Degeneration
GTP Disease Synonym
day blindness
Gene Name
CNGB3
Mutation
complete deletion
Nature of test
mutation test
FCI Number
-50
GTP Breed
Miniature American Shepherd
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Cone Degeneration
GTP Disease Synonym
day blindness
Gene Name
CNGB3
Mutation
deletion removing all exons of canine CNGB3
Nature of test
mutation test
FCI Number
-51
GTP Breed
Miniature Australian Shepherd
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Cone Degeneration
Gene Name
CNGB3
Mutation
complete deletion
Nature of test
mutation test
FCI Number
-50
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