A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2)

Data supplements
Supplemental Material for Mauri, et al., 2017
Supplemental Material
- File S1 -
Video showing the clinical phenotype of the four affected Malinois siblings belonging to family 6 at four weeks of age (MA162-165). (.mp4)
- File S2 -
Sequence context of the 227 bp SINE insertion into exon 2 of the canine ATP1B2 gene. (.pdf)
- File S3 -
Wildtype and mutant ATP1B2 exon 2 splicing patterns and predicted protein isoforms. (.pdf)
- Figure S1 -
IGV screenshot of the region with the 227 nt SINE insertion within exon 2 of the ATP1B2 gene (ATP1B2:c.130_131insLT796559.1:g.50_276). (.pdf)
- Table S1 -
Inherited cerebellar ataxias in the dog with known genetic basis described to date. (.pdf)
- Table S2 -
Sample designations and breed information on 147 dogs with genome sequences. (.xlsx)
- Table S3 -
Genome regions ≥ 1 Mb that showed positive LOD scores for linkage to cerebellar dysfunction in two families. (.xlsx)
- Table S4 -
Homozygous genome regions with shared alleles among the four analyzed cases (PLINK output). (.xlsx)
- Table S5 -
ATP1B2:c.130_131ins227 genotypes of 503 dogs from 87 various dog breeds. (.xlsx)
- File S1 -