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Neuronal Ceroid Lipofuscinosis 8 (English Setter Type)
Test Overview:
A heritable neurodegenerative disease of English Setters has long been studied as a model of human neuronal ceroid-lipofuscinosis (NCL).
Category:
Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene:
CLN8, transmembrane ER and ERGIC protein (CLN8) on Chromosome 37
Variant Detected:
Base Substitution c.491C>T p.Leu164Pro
Severity:
Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Katz ML, et al. A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. (2005) Biochem Biophys Res Com, 327;541-547.
Associated Breed(s):
English Setter , Gordon Setter , Irish Setter, Mixed Breed,
