Exercise-Induced Collapse / EIC
Breed: American Cocker Spaniel
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Exercise-Induced Collapse / EIC
OMIA
1466
Gene Name
DNM1
Mutation
c.767G>T
Test Type
Genetic Disease/Disorder
Key Comments
The mutation associated with EIC has been identified in a number of breeds - particularly hunting/working breeds. As the EIC phenotype requires an environmental stimulus in most cases, it should be noted that dogs could be genetically affected for EIC without displaying the condition. It may be valuable to breeders of those breeds where the mutation has been detected to use a genetic test, where breed-specific research is ongoing.
Details
EIC appears to be autosomal recessive in inheritance, but is unique in that the clinical signs are environmentally induced in dogs homozygous for the mutation. Affected dogs appear normal, and are capable of moderate exercise without incident. However, shortly after any strenuous exercise or excitement, they develop a wobbly gait with hindlimb weakness and incoordination, wide based stance, and walking with crouched hind legs. Signs can progress to full body weakness, extensor rigidity, and confusion. In extreme cases, it has been reported as fatal. Research indicates that the d-EIC mutation for this test may be particularly important to Labrador retrievers concerned about EIC, based on the N. American and European dog populations in the study. A number of hunting/retrieving breeds have been investigated, with phenotype confirmed in some, and suspected in additional breeds. In addition, there are likely other, unrelated causes of excercise intollerance and collapse. Breeds where phenotype and mutation has been established: Labrador Retrievers (and their crosses), Chesapeake Bay Retrievers, Curly-coated Retrievers, Boykin Spaniels, Pembroke Welsh Corgi. Breeds where the mutation has been detected: American Cocker Spaniel, Bouvier des Flanders, Clumber Spaniel, English Cocker Spaniel, German Wirehaired Pointer, Old English Sheepdog, Hungarian Shorthaired Vizsla, Hungarian Wirehaired Vizsla.
Details 2
Affected dogs have normal muscle mass, normal patellar reflexes before an episode of EIC, normal findings on muscle biopsy and are capable of moderate exertion without showing signs (Taylor et al., 2008, Patterson et al., 2008). Signs begin within 2 minutes after cessation of 5 to 15 minutes of strenuous exercise. Affected dogs develop a wobbly gait with hindlimb weakness and incoordination, wide based stance, and walking with crouched hind legs. Signs can progress to full body weakness, extensor rigidity, confusion, loss of consciousness, and rarely death. Episodes frequently last 5-10 minutes, often with complete recovery after 30 minutes. Loss of patellar reflexes persists after initial recovery.
Published
Patterson, EE., Minor, KM., Tchernatynskaia, AV., Taylor, SM., Shelton, GD., Ekenstedt, KJ., Mickelson, JR. : A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse. Nat Genet 40:1235-9, 2008. Pubmed reference: 18806795. DOI: 10.1038/ng.224.
Published 2
Taylor, SM., Shmon, CL., Shelton, GD., Patterson, EN., Minor, K., Mickelson, JR. : Exercise-induced collapse of Labrador retrievers: survey results and preliminary investigation of heritability. J Am Anim Hosp Assoc 44:295-301, 2008. Pubmed reference: 18981194.
Body/System/Process
Neuromuscular
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Labrador retrievers, Labrador retriever crosses, Chesapeake Bay retrievers, curly-coated retrievers, Boykin spaniels, Pembroke welsh corgi
HSP Test-Specific Data
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
dynamin-associated exercise induced collapse, Exercise-induced hyperthermia, exercise related weakness
Gene Name
DNM1
Mutation
c.767G>T
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
167
GTP Breed
American Cocker Spaniel
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
dynamin-associated exercise induced collapse, Exercise-induced hyperthermia, exercise related weakness
Gene Name
DNM1
Mutation
c.767G>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Taylor, S., Minor, K., Shmon, C.L., Shelton, G.D., Patterson, E.E., Mickelson, J.R. : Border Collie Collapse: Owner Survey Results and Veterinary Description of Videotaped Episodes. J Am Anim Hosp A
Application in the Breed
Affected dogs develop a wobbly gait with hindlimb weakness and incoordination, wide based stance, and walking with crouched hind legs. Signs can progress to full body weakness, extensor rigidity, conf
FCI Number
167
GTP Breed
American Cocker Spaniel
University of Minnesota Canine Genetics Lab
GTP
GTP Name
University of Minnesota Canine Genetics Lab
Breed
OMIA
Gene Name
DNM1
Mutation
c.767G>T
FCI Number
167
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
dynamin-associated exercise induced collapse, Exercise-induced hyperthermia, exercise related weakness
Gene Name
DNM1
Mutation
c.767G>T
Nature of test
mutation test
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
DNM1
Mutation
c.767G>T
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
dynamin-associated exercise induced collapse, Exercise-induced hyperthermia, exercise related weakness
Gene Name
DNM1
Mutation
c.767G>T
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
DNM1
Mutation
c.767G>T
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
dynamin-associated exercise induced collapse, Exercise-induced hyperthermia, exercise related weakness
Gene Name
DNM1
Mutation
c.767G>T
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
DNM1
Mutation
c.767G>T
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
DNM1
Mutation
c.767G>T
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
DNM1
Mutation
c.767G>T
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
dynamin-associated exercise induced collapse, Exercise-induced hyperthermia, exercise related weakness
Gene Name
DNM1
Mutation
c.767G>T
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
dynamin-associated exercise induced collapse, Exercise-induced hyperthermia, exercise related weakness
Gene Name
DNM1
Mutation
c.767G>T
Nature of test
mutation test
FCI Number
167
GTP Breed
American Cocker Spaniel
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
DNM1
Mutation
c.767G>T
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
dynamin-associated exercise induced collapse, Exercise-induced hyperthermia, exercise related weakness
Gene Name
DNM1
Mutation
c.767G>T
This test is outsourced to:
outsourced for patent reasons
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
DNM1
Mutation
c.767G>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
DNM1
Mutation
c.767G>T
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
DNM1
Mutation
c.767G>T
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
DNM1
Mutation
c.767G>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
DNM1
Mutation
c.767G>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
DNM1
Mutation
c.767G>T
Key Comment