Testing of dogs: CMS in Labrador Retrievers

Usual turnaround time: 12 business days

1 test price: 56.00 $ without VAT

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Combination Labrador Retriever 2 Achromatopsia, Cystinuria, HUU, LPPN3, MTM1, Narcolepsy + Alexander disease + CMS + Obesity

Congenital myasthenic syndrome (CMS) in Labrador Retrievers

Congenital myasthenic syndrome is an inherited disease that affects neuromuscular transmission. It is manifested by general weakness of the skeletal muscles, often induces by exercise, and a decrease in spinal reflexes. The first signs are already noticeable in the first weeks to months of the puppy's life. The disease progresses rapidly, and most cases result in death or euthanasia of the affected puppy.

The disease in Labrador Retrievers is caused by a missense mutation c.1010T>C in the LOC608697 gene.

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

Reference:

Rinz, C.J., Levine, J., Minor, K.M., Humphries, H.D., Lara, R., Starr-Moss, A.N., Guo, L.T., Williams, D.C., Shelton, G.D., Clark, L.A. : A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome. PLoS One 9:e106425, 2014. Pubmed reference: 25166616

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