Merle allele variations in the Mudi breed

What is it about?

Our study focused on the merle variations occurring in the Mudi breed. A retrotransposon insertion in the SILV gene is associated with a peculiar phenotype of dog known as a merle. It is characterized by various areas of their coat colour becoming diluted due to the malfunction in the eumelanin producing pigment cells. Recent studies have shown that the exact size of the SINE insertion is in correlation of specific phenotypic attributes, but could not absolutely confine dogs to certain colour pattern.

Featured Image

Why is it important?

The practical importance of testing this mutation is that, not only phenotypically merle dogs are carrying this insertion, but also the so called hidden merle individuals – where the merle phenotype is fully covered by the pheomelanin dominated colouration – which is capable of potentially producing unintentionally homozygous "double merle" progeny with ophthalmologic, viability and auditory impairments.