Breeds Affected: Great Dane
Samples Accepted: Blood, Buccal Swabs
Disease Information: IMGD is a progressive disease with symptoms including muscle wasting, weakness, irregular gait, and exercise-induced tremors. Symptoms are usually noted around 6 months of age, and affected pups are normally humanely euthanized by 12 months of age, although a small number of affected animals do stabilize and live to adulthood.
Inheritance Information: IMGD is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/imgd The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/imgd carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
imgd/imgd The dog is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/imgd carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/imgd x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/imgd x N/imgd) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (imgd/imgd) should not be used for breeding.
Test Information: This mutation test identifies a single base change in the BIN1 gene.
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.: Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy. PLoS Genet 9:e1003430, 2013. Pubmed reference: 23754947. Doi: 10.1371/journal.pgen.1003430.
Further information is available at the Online Mendelian Inheritance in Animals website.