Quick Summary
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Phenotype: Spinal muscular atrophy (SMA) is characterized by progressive instability with unsteady gait and posture abnormalities due to loss of motor neurons in the lower spinal cord and atrophy of muscles in the hind limbs. Affected kittens first show signs of SMA at about 3-4 months of age.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal/Unaffected, S = Spinal muscular atrophy
Breeds appropriate for testing: Maine Coon
Explanation of Results:
- Cats with N/N genotype will not have spinal muscular atrophy. They cannot transmit this spinal muscular atrophy variant to their offspring.
- Cats with N/S genotype will not have spinal muscular atrophy, but are carriers. They will transmit this spinal muscular atrophy variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% spinal muscular atrophy-affected kittens.
- Cats with S/S genotype will have spinal muscular atrophy, a non-fatal but disabling condition.
Sample Collection:
Cat DNA tests are carried out using cells collected from your cat's cheeks and gums using household cotton swabs.
The cat DNA submission form with instructions and a place to tape the cotton swabs is sent to you via email after you place an order, and can be printed from your home computer. Test kits are not mailed.
Step-By-Step Instructions:
1.
Purchase regular household cotton swabs for cat DNA collection (the cotton swabs can be purchased at a pharmacy or drug store)
2.
Use both ends of the two cotton swabs for a total of four swabs.
3.
Collect the DNA sample by swabbing the cheek and gums of the cat. Wave the swab in the air for 10-15 seconds to air dry it before attaching it to the submission form. We recommend swabbing different areas of the cat's cheeks.
4.
After swabbing the cheek and gums, tape the cotton swabs to the bar-coded submission form printed from your MyVGL account.
Spinal Muscular Atrophy (SMA) is a genetic disease seen in Maine Coon cats. The disease is characterized by progressive instability with unsteady gait and posture abnormalities due to loss of motor neurons in the lower spinal cord and atrophy of muscles in the hind limbs. Affected kittens first show signs of SMA at about 3-4 months of age. The condition is neither painful nor fatal and affected cats can live a comfortable life indoors. The disease is inherited as an autosomal recessive, thus 2 copies of the mutation are required to produce the disease and both males and females are equally affected. SMA in Maine Coon cats is caused by a large deletion of chromosome 1.
Testing to identify both affected cats and carriers assists breeders to avoid future matings that can produce affected kittens.