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Achromatopsia (cone degeneration, hemeralopia), GSPT
Breed: German Shorthaired Pointing Dog/ Deutsch Kurzhaar
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
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 (cone degeneration, hemeralopia), GSPT
OMIA
1676
Gene Name
CNGB3
Mutation
c.784G>A
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), and total colour-blindness. 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 bright light, normal vision in dim light. 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.
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
Dixon, C.J. : Achromatopsia in three sibling Labrador Retrievers in the UK. Vet Ophthalmol 19:68-72, 2016. Pubmed reference: 25752464. DOI: 10.1111/vop.12265.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
German Shorthaired Pointers, Alaskan Malamute
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
CNGB3
Mutation
c.784G>A
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Day Blindness, Cone Degeneration, Hemaralopia
Gene Name
CNGB3
Mutation
c.784G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
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
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
CNGB3
Mutation
c.784G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
CNGB3
Mutation
c.784G>A
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
CNGB3
Mutation
c.784G>A
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Day Blindness, Cone Degeneration, Hemaralopia
GTP Disease Synonym
day blindness
Gene Name
CNGB3
Mutation
c.784G>A
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Day Blindness, Cone Degeneration, Hemaralopia
Gene Name
CNGB3
Mutation
c.784G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
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
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Day Blindness, Cone Degeneration, Hemaralopia
GTP Disease Synonym
day blindness
Gene Name
CNGB3
Mutation
c.784G>A
Nature of test
mutation test
FCI Number
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
CNGB3
Mutation
c.784G>A
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.784G>A
Nature of test
mutation test
This test is outsourced to:
Optigen
FCI Number
119
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
CNGB3
Mutation
c.784G>A
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Day Blindness, Cone Degeneration, Hemaralopia
GTP Disease Synonym
day blindness
Gene Name
CNGB3
Mutation
c.784G>A
Nature of test
mutation test
FCI Number
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Day Blindness, Cone Degeneration, Hemaralopia
GTP Disease Synonym
day blindness
Gene Name
CNGB3
Mutation
c.784G>A
Nature of test
mutation test
FCI Number
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
CNGB3
Mutation
c.784G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
CNGB3
Mutation
c.784G>A
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Day Blindness, Cone Degeneration, Hemaralopia
GTP Disease Synonym
day blindness
Gene Name
CNGB3
Mutation
c.784G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Sadjanin DJ, Lowe JK, McElsee JL, Milne BS, Phippen TM, Sargan DR, Aguirre GD, Acland GM, Ostrander EA. 2002. Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Human Molecular Genetics 11(16):1823-18
Application in the Breed
loss of cone function, photophobia
Inheritance
AR
FCI Number
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
CNGB3
Mutation
c.784G>A
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Day Blindness, Cone Degeneration, Hemaralopia
GTP Disease Synonym
day blindness
Gene Name
CNGB3
Mutation
c.784G>A
Nature of test
mutation test
FCI Number
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
CNGB3
Mutation
c.784G>A
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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