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Cerebellar Ataxia (Finnish Hound Type) Overview

Cerebellar Ataxia (Finnish Hound Type)
US$ 94.00 RRP
US$ 85.00 REGISTERED USER PRICE
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Category: Neurologic (Associated with the Brain, Spinal and Nerves)

Gene: SEL1L ERAD E3 ligase adaptor subunit (SEL1L) on chromosome 8

Variant Detected: Base Substitution c.1972T>C Ser568Pro

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

Research Citation(s): 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 Lapphund,  Mixed Breed,