Fig. 1

Genotyping is performed using Southern blot. Southern blot is used for genotyping as PCR based methods cannot reliably distinguish the different genotypes due to the type of the mutation. The affected dogs (A) are homozygous for the dodecamer repeat expansion mutation with multiple dodecamer repeats, carrier (C) dogs have the normal and mutated allele and clear dogs (WT) have three copies of the repeat [8]