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Canine Mendelian disease record

Nemaline Myopathy (Discovered in the American Bulldog; NEB-related)

Nemaline Myopathy (Discovered in the American Bulldog; NEB-related). Autosomal recessive. Observed in 0 of 266 breeds tested in the Sniff Atlas, with measured variant frequencies drawn from 242,663 dogs (Donner 2023). Whether a dog carrying this variant is at risk depends on the disease’s inheritance pattern; outcome also depends on penetrance, modifiers, and environment. The frequencies below describe variant prevalence, not confirmed disease incidence.

OMIA identifier
OMIA:002137-9615
Autosomal recessive
Source dataset
Sniff Atlas v1.0.1 / DOI
The human connection

A model of human nemaline myopathy 2

This canine condition is studied as a natural model of nemaline myopathy 2 in people; it is not the same as a human nemaline myopathy 2 diagnosis. Studying dogs can move medicine forward for everyone; the canine disease remains the subject.

In people, the disease is described as: An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.

In humans it is also called: NEM2, NEB nemaline myopathy, nemaline myopathy caused by mutation in NEB, nemaline myopathy type 2.

MONDO:0009725 OMIM 256030

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 2026-08-27.

Clinical features

Evans et al. (2016): "Affected dogs could independently ambulate, had generalized atrophy, and the myopathy was relatively non-progressive (Supplemental video). Atrophy of the cervical and dorsal thoracic limb muscles was noted with bilateral hypertrophy of the triceps muscles. Serum creatine kinase (CK) activities were mildly elevated. Electromyography (EMG) revealed spontaneous electrical activity, consisting mainly of fibrillation potentials, within the proximal appendicular muscles of the thoracic limbs and the cervical paraspinal musculature. Motor nerve conduction velocity (MNCV) testing showed a mild decrease in the latency of the tibial and ulnar nerves. Respiratory difficulties were not present."

Molecular genetics

Evans et al. (2016) reported a likely causal variant, namely "a nonsense mutation in NEB (g.52734272 C>A, S8042X) . . . The pathogenic variant was absent from 120 dogs of 24 other breeds and 100 unrelated ABDs, suggesting that it occurred recently and may be private to the family".

History

Evans et al. (2016) described "a novel NM [nemaline myopathy] in a family of American bulldogs"

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.

Disease · OMIM 256030 Gene · OMIM 161650

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:002137-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

OMIA curates the disease definition, the clinical description and the reference list. The cross-species disease identity is Monarch's. Sniff renders these and adds the breed-level frequencies, the plain-language summary, and a stated reason wherever a number is missing.

Signs & cross-references

How it presents

Catalogued in the Mondo disease ontology (the cross-species disease identity used by the Monarch Initiative) as nemaline myopathy 2 (MONDO:0009725).

Phenotype terms: Human Phenotype Ontology + Mammalian Phenotype Ontology; disease terms: Mondo (Monarch Initiative). Cross-references curated by OMIA (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.

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.

Your breed

See what Nemaline Myopathy (Discovered in the American Bulldog; NEB-related) looks like in your dog's breed.
Variant frequency by breed

Observed only in small-sample breeds

Maximum variant frequency 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.

Scope of this record

Scope

This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.

Predicted disease relevance at the per-dog level is UNPROVEN. The variant frequency is measured; phenotype outcome depends on 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:002137-9615.

  • 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:002137-9615 · Donner et al. 2023