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May, 2018
Animal Genetics offers new assay for Glaucoma in Border Collies. Please visit Glaucoma for more information

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Sensory Neuropathy - Border Collie

Description:

Sensory neuropathy (SN) is a progressive neurological disorder in Border Collies caused by the degeneration of primarily sensory nerve cells, although some motor nerve cells are also often affected.  Symptoms of the disorder generally appear between 2 and 7 months of age.


Clinical signs include difficulty walking due to abnormal gait and extended limbs with hind limbs generally being more affected the front.  Additional symptoms include knuckling of paws, muscle atrophy, urinary incontinence and regurgitation have also been seen in later stages of the disease.  Affected animals often develop a tingling or numbing sensation which drives them to chew on their limbs and feet resulting in large wounds caused by the self-mutilating behavior.  Prognosis is pour and due to quality of life concerns affected dogs are often euthanized within 18 months.


In Border collies it was discovered that a mutation (inversion) in the FAM134B gene is the genetic cause for a recessive form of the disease. This means that a dog must have 2 copies of the mutated FAM134B gene (one coming from each parent) in order for a dog to be affected.  Dogs with one copy of the mutated gene are considered carriers and will not be affected but can pass the mutated gene on to 50% of its offspring. .

Sample Type:

Animal Genetics accepts Buccal Swab, Blood, Dewclaw. Collection kits are available and can be ordered at test now.

Test Is Relevant to the Following Breeds:

Border Collie

Results:

Animal Genetics offers DNA testing for Sensory neuropathy (SN) in Border Collies. The genetic test verifies the presence of the recessive mutation and presents results as one of the following:

SN/SN Affected The dog carries two copies of the mutant gene and is homozygous for the FAM134B mutation associated with SN. The dog will develop SN and will always pass a copy of the mutation to its offspring.
N/SN Carrier One copy of the FAM134B gene mutation that causes SN. Dog is a carrier and can pass on a copy of the defective gene to its offspring 50% 0f the time.
N/N Clear Sample tested negative for the FAM134B gene mutation that causes SN, and will not pass on the defective gene to its offspring.

Reference:

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed

Oliver P. Forman, Rebekkah J. Hitti, Louise Pettitt, Christopher A. Jenkins, Dennis P. O'Brien, G. Diane Shelton, Luisa De Risio, Rodrigo Gutierrez Quintana, Elsa Beltran and View ORCID ProfileCathryn Mellersh G3: GENES, GENOMES, GENETICS September 1, 2016 vol. 6 no. 9 2687-2692; https://doi.org/10.1534/g3.116.027896