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Acral Mutilation Syndrome (SPANIEL & POINTER TYPE)

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Test Overview:

Do not breed affected dogs to prevent passing the disease to offspring. Avoid carrier x carrier matings as this results in a 25% chance of affected puppies per litter. Breed carriers only to clear (non-carrier) dogs to prevent affected puppies, although some offspring may be carriers. Routine genetic testing for AMS mutations is strongly recommended in breeds at higher risk to guide responsible breeding decisions. Breed clubs and veterinary geneticists often provide breeding guidelines to reduce disease incidence while maintaining genetic diversity.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

GDNF

Variant Detected:

chr4:70875561 (canFam3): C>T

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Cummingss JF, de Lahunta A, Winn SS. Acral mutilation and nociceptive loss in English pointer dogs. A canine sensory neuropathy. Acta Neuropathol. 1981;53(2):119-27. [PubMed: 6259871] Plassais J, Lagoutte L, Correard S, Paradis M, Guaguere E, Hedan B, Pommier A, Botherel N, Cadiergues M, Pilorge P, Silversides D, Bizot M, Samuels M, Arnan C, Johnson R, Hitte C, Salbert G, Mereau A, Quignon P, Derrien T, Andre C. A Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory Neuropathies. PLoS Genet. 2016 Dec 29;12(12):e1006482. [PubMed: 28033318]

Associated Breed(s):

Bernardoodle, Cockapoo, Cocker Spaniel, English Springer Spaniel, German Shorthaired Pointer, Pointer,

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