UC Davis School of Veterinary Medicine Veterinary Genetics Laboratory

Inherited Myopathy of Great Danes

Introduction

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.

The VGL offers a test for IMGD to assist owners and breeders in identifying affected and carrier dogs. The test uses DNA collected from buccal (cheek) swabs, thus avoiding blood sample collection. Breeders can use results from the test as a tool for selection of mating pairs to avoid producing affected dogs.

ORDER TEST KITS | PRICE LIST
Allow 2-6 business days for results.

Results reported as:

N/N Normal - no copies of the IMGD mutation
N/IM Carrier - 1 copy of the IMGD mutation; dog is normal
IM/IM Affected - 2 copies of the IMGD mutation

References:

SE Davies, DR Davies, RB Richards and WJ Bruce. Inherited myopathy in a Great Dane. Australian Veterinary Journal 2008;86:43-45.

Böhm J, Vasli N, Maurer M, Cowling B, Shelton GD, Kress W, Toussaint A, Prokic I, Schara U, Anderson TJ, Weis J, Tiret L, Laporte J. Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progresive centronuclear myopathy. PLoS Genet. 2013 Jun;9(6):e1003430. doi: 10.1371/journal.pgen.1003430.

 
Veterinary Genetics Laboratory, Tel 530-752-2211, Email VGL