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Two mixed breed dogs with sensory neuropathy are homozygous for an inversion disrupting FAM134B previously identified in Border Collies
- Amengual‐Batle, Pablo, Rusbridge, Clare, José‐López, Roberto, Golini, Lorenzo, Shelton, G. Diane, Mellersh, Cathryn S., Gutierrez‐Quintana, Rodrigo
- Journal of veterinary internal medicine 2018 v.32 no.6 pp. 2082-2087
- Collie, ancestry, ataxia (disorder), dogs, genetic testing, homozygosity, males, mixed breeds, mutation, pain, peripheral nervous system diseases, phenotype
- Two unrelated 8‐month‐old male mixed breed dogs were presented for evaluation of progressive ataxia, knuckling, and lack of pain perception in the distal limbs. Because of the similarity in age of onset, progression, and clinical findings with previously described sensory neuropathy in Border Collies, the affected dogs were screened for an FAM134B mutation and were determined to be homozygous for the mutation. Despite few phenotypic similarities with other breeds, genetic testing for specific diseases should be considered in mixed breed dogs with compatible clinical signs, especially if ancestry is unknown.