A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1)

A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1)

We observed a hereditary phenotype in Alaskan Huskies that was characterized by polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV). The affected dogs developed a progressive severe ataxia, which led to euthanasia between 8 and 16 months of age. The pedigrees were consistent wi...

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Bibliographic Details
Main Authors: Michaela Wiedmer, Anna Oevermann, Stephanie E. Borer-Germann, Daniela Gorgas, G. Diane Shelton, Michaela Drögemüller, Vidhya Jagannathan, Diana Henke, Tosso Leeb
Format: Article
Language:English
Published: Oxford University Press 2016-02-01
Series:G3: Genes, Genomes, Genetics
Subjects:
dog
canis familiaris
whole genome sequencing
animal model
linkage
homozygosity
Online Access:http://g3journal.org/lookup/doi/10.1534/g3.115.022707

Internet

http://g3journal.org/lookup/doi/10.1534/g3.115.022707

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