Paw Print Genetics was approached by the Australian Shepherd Health & Genetics Institute (ASHGI) to conduct a pilot project on blue-eyed, tricolored (BET) Australian shepherds (Aussies) to understand whether these dogs have the SINE insertion in the PMEL gene that can cause a variety of coat color and pattern variations known as merle. Identifying whether these dogs do or do not have the merle mutation can help inform how to conduct a larger research study. The merle mutation seemed a logical place to start, as dogs with classic merle coat color patterns can have blue eyes [Clark et al., 2006].
With the help of ASHGI and several breeder volunteers, we collected 38 BET dogs that have blue eyes but no coat variations associated with carrying a copy of the merle mutation. These dogs were not randomly selected from the whole Aussie population, but rather, were sent to us from the breeder volunteers. Thus, many of the dogs collected may have been related.
Paw Print Genetics recently launched a high-resolution test for merle that allows for identifying variation within the SINE insertion and allows for discrimination of the various possible merle alleles. Using this DNA sequence-based, high-resolution test, we ...