OMIA 002240-9615 : Ataxia, cerebellar, KCNIP4-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KCNIP4||Kv channel interacting protein 4||Canis lupus familiaris||3||NC_051807.1 (88754615..89880267)||KCNIP4||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|Norwegian Buhund||Ataxia, cerebellar, KCNIP4-related||KCNIP4||missense||Naturally occurring variant||CanFam3.1||3||g.88890674T>C||p.(T?R)||NC_006585.3:g.88890674T>C (Jenkins et al., 2020)||2020||31999692|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2020||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.|
|2018||Mari, L., Matiasek, K., Jenkins, C.A., De Stefani, A., Ricketts, S.L., Forman, O., De Risio, L. :|
|Hereditary ataxia in four related Norwegian Buhunds. J Am Vet Med Assoc 253:774-780, 2018. Pubmed reference: 30179085. DOI: 10.2460/javma.253.6.774.|
- Created by Frank Nicholas on 03 Feb 2020
- Changed by Frank Nicholas on 03 Feb 2020