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Congenital Stationary Night Blindness (CSNB)

Breed: Briard

Generic Phene Data

Breeds

Relevance Rating: Some evidence for test being meaningful in this breed

General

Disease Name
Congenital Stationary Night Blindness (CSNB)
Mutation
c.460_463delAAGA
Test Type
Genetic Disease/Disorder
Details
Congenital Stationary Night Blindness (csnb) in Briards is an inherited disease caused by a defect in the gene RPE65. The symptoms include night blindness and a loss of vision in daylight that can vary between individual dogs. The disease shows an autosomal recessive mode of inheritance. The genetic defect underlying this condition was first identified in the Swedish population of Briards as a deletion of a small segment of the DNA within the gene for RPE65, a protein involved in the biochemistry of vision. (since also confirmed in UK populations of Briards)
Details 2
Congenital Stationary Night Blindness (csnb) in Briards is an inherited disease caused by a defect in the gene RPE65. The symptoms include night blindness and a loss of vision in daylight that can vary between individual dogs. The disease shows an autosomal recessive mode of inheritance. The genetic defect underlying this condition was first identified in the Swedish population of Briards as a deletion of a small segment of the DNA within the gene for RPE65, a protein involved in the biochemistry of vision. (since also confirmed in UK populations of Briards)
Published
Aguirre, G.D., Baldwin, V., Pearce-Kelling, S., Narfström, K., Ray, K., Acland, G.M. : Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. Mol Vis 4:23, 1998. Pubmed reference: 9808841.

Breed Specific Data

Zoolyx

GTP
GTP Name
Zoolyx
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA

Progènes-ADN

GTP Name
Progenes ADN
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA

PharmaDNA

GTP
GTP Name
PharmaDNA
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA

INNO

GTP
GTP Name
INNO
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA

CMSCH

GTP
GTP Name
CMSCH
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA

BioBank AS

GTP Name
BioBank AS
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA

Anicom

GTP
GTP Name
Anicom
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA

Animal Genetics Laboratory, SLU

GTP Name
Animal Genetics Laboratory SLU
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA

DNA My Dog

GTP Name
DNA My Dog
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA
Inheritance
AR
GTP Breed
Briard

Certagen GmbH

GTP Name
Certagen GmbH
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA

VHL Genetics

GTP Name
VHL Genetics
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA

Paw Print Genetics

GTP Name
Paw Print Genetics
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA
Inheritance
AR
GTP Breed
Briard

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA
Inheritance
AR
GTP Breed
Briard

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA
Inheritance
AR
GTP Breed
Briard

Genomia s.r.o

GTP Name
Genomia s.r.o
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA
GTP Breed
Briard

EVG Diagnostics

GTP Name
EVG Molecular Diagnostics
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA

Embark

GTP
GTP Name
Embark
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA
Inheritance
AR
GTP Breed
Briard

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA
Inheritance
AR
GTP Breed
Briard

Antagene

GTP
GTP Name
Antagene
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA
Inheritance
AR
GTP Breed
Briard

Animal Health Trust (UK)

GTP Name
Animal Health Trust (UK)
Breed
Gene Name
RPE65
Mutation
c.460_463delAAGA
Inheritance
AR
GTP Breed
Briard
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