Affected Gene: ATP1B2
Transmission: Autosomal recessive
Mutation: chr5:32551064-32551065 (CanFam3): 277 bp SINE Insertion
OMIA Link: 002110-9615


Breeds Recommended for Testing: Belgian Shepherds.


References:
 
 
Mauri, N., Kleiter, M., Dietschi, E., Leschnik, M., Högler, S., Wiedmer, M., Dietrich, J., Henke, D., Steffen, F., Schuller, S., Gurtner, C., Stokar-Regenscheit, N., O'Toole, D., Bilzer, T., Herden, C., Oevermann, A., Jagannathan, V., Leeb, T.
A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2).
G3 (Bethesda) 7:2729-2737, 2017. PubMed: 28620085
DOI: 10.1534/g3.117.043018
 
 
Mauri, N., Kleiter, M., Leschnik, M., Högler, S., Dietschi, E., Wiedmer, M., Dietrich, J., Henke, D., Steffen, F., Schuller, S., Gurtner, C., Stokar-Regenscheit, N., O'Toole, D., Bilzer, T., Herden, C., Oevermann, A., Jagannathan, V., Leeb, T.
A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).
G3 (Bethesda) 7:663-669, 2017. PubMed: 28007838
DOI: 10.1534/g3.116.038455