Gene involved
SNX14
Mutation tested
c.256+1G>A
Transmission mode : Autosomal recessive
Publication : Feen et al. (2016). Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed.
Gene involved
RAB24
Mutation tested
c.113A>C
(HA)
Transmission mode : Autosomal recessive
Publication : Agler et al. (2014). Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24.
Gene involved
SPTBN2
Mutation tested
c.5921del8bpTCAAGGCA
(NCCD)
Transmission mode : Autosomal recessive
Publication : Forman et al. (2012). Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation.