Canis lupus familiaris breed: Australian Kelpie with cerebellar abiotrophy. Canis lupus familiaris breed:Australian Kelpie

Australian working Kelpies (Canis lupus familiaris) with cerebellar abiotrophy (CA). Whole genome sequencing were performed on the Illumina HiSeq 2000/2500 platforms with four affected working Kelpies, one unaffected sibling and one unaffected parent, to identify the underlying genetic cause of CA. Cases were diagnosed with CA by veterinarians or veterinary neurologist based on clinical examinations, and pathology studies of the brain tissues where possible. Further mapping and screening in working Kelpies segregating with CA may reveal putative CA causative variants, and potential novel biochemical pathways.