Phenotype: Inherited myopathy of Great Danes (IMGD) is a rapidly progressive muscle myopathy with an age of onset around six months. Affected dogs exhibit exercise intolerance and progressive muscle atrophy. Research data suggest that only 20% of affected dogs survive to adulthood with acceptable quality of life.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal, IM = Inherited myopathy of Great Danes
Breeds appropriate for testing: Great Dane
Explanation of Results:
Dogs with N/N genotype will not have inherited myopathy of Great Danes and cannot transmit this variant to their offspring.
Dogs with N/IM genotype will not be affected by inherited myopathy of Great Danes, but are carriers. They will transmit this inherited myopathy variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% inherited myopathy-affected puppies.
Dogs with IM/IM genotype will have inherited myopathy of Great Danes.
At least 15 business days; may be delayed beyond 15 business days if sample requires additional testing, or a new sample is requested.
Inherited myopathy of Great Danes (IMGD) is a rapidly progressive muscle myopathy with an age of onset around six months. The disease is inherited in an autosomal recessive fashion thus two copies of the IMGD mutation are needed for a dog to be affected.
IMGD results from a single base change in the bridging integrator 1 (BIN1) gene. Affected dogs exhibit exercise intolerance and progressive muscle atrophy. Research data suggest that only 20% of affected dogs survive to adulthood with acceptable quality of life. Dogs with one normal and one mutated BIN1 gene (carriers) are unaffected, but breeding two carriers together would be predicted to produce 25% affected offspring and 50% carriers.
Testing for IMGD assists owners and breeders in identifying affected and carrier dogs. Breeders can use results from the test as a tool for selection of mating pairs to avoid producing affected dogs.
Carrier. 1 copy of the IMGD mutation. Dog is normal.
Affected. 2 copies of the IMGD mutation.
Davies, S.E., Davies, D.R., Richards, R.B., & Bruce, W.J. (2008). Inherited myopathy in a Great Dane. Australian Veterinary Journal, 86(1-2), 43-45. doi: 10.1111/j.1751-0813.2007.00202.x
Böhm, J., Vasli, N., Maurer, M., Cowling, B., Shelton, G.D., Kress, W., Toussaint, A., Prokic, I., Schara, U., Anderson, T.J., Weis, J., Tiret, L., & Laporte, J. (2013). Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progresive centronuclear myopathy. PLoS Genetics, 9(6):e1003430. doi: 10.1371/journal.pgen.1003430