title: Presence and impact of the exercise-induced collapse associated DNM1 mutation in Labrador retrievers and other breeds.
abstract: The impact of the mutation causing dynamin 1 (DNM1)-associated exercise-induced collapse (d-EIC) was determined in a retrospective genetic survey. The frequency of DNM1 mutant allele carriers in Labrador retrievers from conformation show, field trial/hunt test, pet or service lines ranged from 17.9% to 38.0% and the frequency of homozygous mutant (EE genotype) individuals ranged from 1.8% to 13.6%; 83.6% of these EE Labradors were reported to have collapsed by 4 years of age. DNM1 mutation carriers and EE dogs with a collapse phenotype were also detected in Chesapeake Bay retrievers, Curly-coated retrievers, Boykin spaniels, Pembroke Welsh corgis and mixed breed dogs thought to be Labrador retriever crosses. The DNM1 mutation was not identified in Golden, Flat-coated, or Nova Scotia duck tolling retrievers, or 15 other non-retrieving breeds. Veterinarians and breeders should be aware that the DNM1 EE genotype is not completely penetrant and that d-EIC is a widespread health concern in several very popular breeds, as well as breeds whose genetic similarity to retrievers is not obvious.
authors.affiliation: Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, St. Paul, MN 55108, USA.
authors.forename: Katie M
authors.initials: KM
authors.lastname: Minor
authors.forename: Edward E
authors.initials: EE
authors.lastname: Patterson
authors.forename: Marguerite K
authors.initials: MK
authors.lastname: Keating
authors.forename: Stephanie D
authors.initials: SD
authors.lastname: Gross
authors.forename: Kari J
authors.initials: KJ
authors.lastname: Ekenstedt
authors.forename: Susan M
authors.initials: SM
authors.lastname: Taylor
authors.forename: James R
authors.initials: JR
authors.lastname: Mickelson
mesh_terms: D000818:Animals; D002170:Canada / Q000453:epidemiology; D004283:Dog Diseases / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D004285:Dogs; D034284:Dynamin I / Q000235:genetics*; D005787:Gene Frequency; D018908:Muscle Weakness / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology / Q000662:veterinary*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D010805:Physical Conditioning, Animal / Q000009:adverse effects*; D012189:Retrospective Studies; D013045:Species Specificity; D014481:United States / Q000453:epidemiology
chemical_list: D034284:Dynamin I