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Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
SEL1L ERAD E3 ligase adaptor subunit (SEL1L) on chromosome 8
Base Substitution c.1972T>C Ser568Pro
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance:
Kyöstilä K, et al. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. (2012) PLoS Genet. 8(6): e1002759
Associated Breed(s):Finnish Hound, Mixed Breed,