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Cerebellar Ataxia Norwegian Buhund

Breed: Hungarian shorthaired pointer/ Rövidszörü Magyar Viszla

Generic Phene Data

Breeds

Relevance Rating: There is some evidence or research available for these breeds

General

Disease Name
Cerebellar Ataxia Norwegian Buhund
Mutation
g.88,890,674T>C
Mutation 2
p.(Trp?Arg)
Test Type
Genetic Disease/Disorder
Details
This form of Cerebellar Ataxia is progressive, causing uncoordinated movements and head tremors, with no known effective treatment. Age of onset reported as young as 12 weeks. Affected animals are often euthanized on welfare grounds.
Details 2
This form of Cerebellar Ataxia is progressive, causing uncoordinated movements and head tremors, with no known effective treatment. Age of onset reported as young as 12 weeks. Affected animals are often euthanized on welfare grounds.
Published
Jenkins, C.A., Kalmar, L., Matiasek, K., Mari, L., Kyöstilä, K., Lohi, H., Schofield, E.C., Mellersh, C.S., De Risio, L., Ricketts, S.L. : Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs. PLoS Genet 16:e1008527, 2020. Pubmed reference: 31999692. DOI: 10.1371/journal.pgen.1008527.

Breed Specific Info

Researched Breeds
Norwegian Buhund
Breed-specific 1
Norwegian Buhund
Breed-specific 1 Details
Jenkins, C.A., Kalmar, L., Matiasek, K., Mari, L., Kyöstilä, K., Lohi, H., Schofield, E.C., Mellersh, C.S., De Risio, L., Ricketts, S.L. : Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs. PLoS Genet 16:e1008527, 2020. Pubmed reference: 31999692. DOI: 10.1371/journal.pgen.1008527.

Breed Specific Data

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
unpublished
Mutation
unpublished

VHL Genetics

GTP Name
VHL Genetics
Gene Name
unpublished
Mutation
unpublished

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
unpublished
Mutation
unpublished

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
unpublished
Mutation
unpublished

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
unpublished
Mutation
unpublished

INNO

GTP
GTP Name
INNO
Gene Name
unpublished
Mutation
unpublished

CMSCH

GTP
GTP Name
CMSCH
Gene Name
unpublished
Mutation
unpublished

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
unpublished
Mutation
unpublished

BioBank AS

GTP Name
BioBank AS
Gene Name
unpublished
Mutation
unpublished

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
unpublished
Mutation
unpublished
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