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Canine Mendelian disease record

Exercise-Induced Collapse (EIC)

Exercise-Induced Collapse (EIC). Autosomal recessive (incomplete penetrance). Observed in 36 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,625 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier
OMIA:001466-9615
Autosomal recessive (incomplete penetrance)
Source dataset
Sniff Atlas v1.0.1 / DOI
The human connection

A model of human developmental and epileptic encephalopathy, 31A

This is the canine counterpart of developmental and epileptic encephalopathy, 31A in people. That makes affected dogs a naturally-occurring model of the human disease, and it is part of why studying dogs moves medicine forward for everyone. It does not mean your dog has the human disease. It means the two share an underlying biology.

In people, the disease is described as: Any developmental and epileptic encephalopathy in which the cause of the disease is a heterozygous mutation in the DNM1 gene.

In humans it is also called: DEE31, DEE31A, EIEE31, DNM1 early infantile epileptic encephalopathy.

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Sniff renders this as a model-of link; the canine disease remains the subject of this page.

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

Summary

Exercise-induced collapse (EIC) is an inherited neuromuscular disorder characterized by exercise intolerance in otherwise healthy young adult dogs. Clinical signs are precipitated by strenuous exercise. A causative mutation in dynamin 1 has been identified in retriever breeds listed below, but not yet in Border Collies. [Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT in 2011; revised by FN 29 Oct 2020]

Clinical features

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.

Molecular genetics

The causative mutation in Labrador retrievers, Chesapeake Bay retrievers and curly-coated retrievers is a G to T substitution in exon 6 that changes the amino acid codon from arginine to leucine (R256L) in a highly conserved region of DNM1 (Patterson et al., 2008).

Pathology

Dynamin 1 is a type of GTPase that facilitates continuous neurotransmission across synapses. At the presynaptic terminal membrane, it assists in release of membrane vesicles containing neurotransmitter, which is needed for continuous synaptic communication (Patterson et al 2008). During high intensity exercise, DNM1 activity is inadequate to maintain synaptic transmission, which causes reversible loss of motor function (Patterson et al., 2008).

Prevalence

In a population of 400 Labrador Retrievers from the Midwestern US, 37% were carriers and 3% were homozygous for the causative mutation. This suggests a high frequency of this mutation in Labrador Retrievers. Homozygous Labrador Retrievers have also been found in Europe, the Middle East, and Australia (Patterson et al., 2008).

Inheritance

Exercise-induced callapse in Labrador retrievers is a Mendelian trait. Norton et al. (2021) concluded that the disease in border collies (BCC) is a moderately- to highly-heritable complex polygenetic disease.

History

EIC was first identified in Labrador Retrievers (Taylor et al., 2008).

Control

It is recommended that working dogs or those showing signs be tested, as well as relatives of affected dogs. Breeding of homozygous dogs should be avoided. Breeding of carriers to noncarriers will avoid production of affected dogs. [updated 29 Oct 2020, with thanks to Frank Coopman]

Genetic testing

A test is available to detect carriers and homozygotes (Patterson et al, 2008).

Human analog

OMIA links this condition to its human counterpart in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001466-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers. Showing 6 of 16.

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Predict a litter

Set each parent's status for Exercise-Induced Collapse (EIC) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A
Parent B
NNClear
NmCarrier
NmCarrier
mmAffected
Clear25%
Carrier50%
Affected25%

These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.

Your breed

See what Exercise-Induced Collapse (EIC) looks like in your dog's breed.

Carrier frequency by breed

Top 25 well-sampled breeds (n ≥ 50)

Maximum per breed across variants in the Donner 2023 cohort, with . The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

0%38%75%
Old English Sheepdog13.1% · n 423
Boykin Spaniel11.7% · n 154
Labrador Retriever10.6% · n 16,853
Cocker Spaniel9.5% · n 1,880
Pembroke Welsh Corgi7.0% · n 4,371
Bouvier Des Flanders4.0% · n 62
Rhodesian Ridgeback2.5% · n 323
Maltese2.2% · n 2,413
Coton De Tulear1.9% · n 104
Vizsla1.6% · n 318
Australian Kelpie0.48% · n 104
Cardigan Welsh Corgi0.40% · n 125
Border Collie0.22% · n 6,713
n = 34,044 dogs · Donner et al. 2023 carrier-screening cohort · Sniff Atlas
Each bar is one well-sampled breed; the whisker is its Wilson 95% CI, and fainter bars have wider intervals. Frequencies are population-level, not per-litter. Carrier status for Exercise-Induced Collapse (EIC) is measured; phenotype outcome depends on penetrance and modifiers.
▸ Full table with Wilson 95% confidence intervals
Breed Carrier frequency n tested
Curly Coated Retriever 42.9% 63
Old English Sheepdog 13.1% 423
Boykin Spaniel 11.7% 154
Labrador Retriever 10.6% 16,853
Cocker Spaniel 9.5% 1,880
Chesapeake Bay Retriever 7.6% 138
Pembroke Welsh Corgi 7.0% 4,371
Bouvier Des Flanders 4.0% 62
Rhodesian Ridgeback 2.5% 323
Maltese 2.2% 2,413
Coton De Tulear 1.9% 104
Vizsla 1.6% 318
Australian Kelpie 0.48% 104
Cardigan Welsh Corgi 0.40% 125
Border Collie 0.22% 6,713
Schnauzer Miniature 0.16% 4,637
Beagle 0.12% 5,291
Chihuahua 0.12% 4,273
Collie <0.1% 1,207
Weimaraner <0.1% 647
English Springer Spaniel <0.1% 751
Rottweiler <0.1% 4,717
Dalmatian <0.1% 820
Poodle Standard <0.1% 4,203
Golden Retriever <0.1% 12,879

Top 25 of 35 well-sampled breeds with at least one observed carrier shown.

▸ Also observed in 1 small-sample breed (n < 50)

Frequencies in this section are statistical estimates with wide Wilson 95% confidence intervals (typically >20 percentage points). Treat these as "carriers observed but the true population frequency is not yet measurable" rather than as comparable to the well-sampled entries above.

Breed Estimate n tested
Clumber Spaniel 16.7% 12

230 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Penetrance

From genotype to phenotype

Carrier status is not the same as disease status. Penetrance is the fraction of at-risk dogs that develop the phenotype. The Donner 2023 S4 table tracks this for 1 variant(s) underlying this disease in the cohort.

At-risk dogs evaluated
2
Phenotype confirmed
0
Penetrance range
not yet quantifiable

Fewer than 20 at-risk dogs evaluated; too few to state a penetrance figure.

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome is governed by penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

Citations

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

  • Sniff Atlas v1.0.1 for the per-breed carrier frequencies:

    Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.

  • OMIA for the disease definition, inheritance, and gene assignment:

    Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:001466-9615.

  • Donner et al. 2023 for the breed × variant carrier-frequency cohort:

    Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Related

Related

Last updated
Sources: Sniff Atlas v1.0.1 · OMIA OMIA:001466-9615 · Donner et al. 2023