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Canine Mendelian disease record

Muscular Dystrophy, Ullrich Type (Discovered in the Landseer)

Muscular Dystrophy, Ullrich Type (Discovered in the Landseer). Autosomal recessive. Observed in 3 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,495 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:001967-9615
Autosomal recessive
Source dataset
Sniff Atlas v1.0.1 / DOI
The human connection

A model of human Ullrich congenital muscular dystrophy 1A

This is the canine counterpart of Ullrich congenital muscular dystrophy 1A 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 humans it is also called: UCMD1, Ullrich congenital muscular dystrophy 1.

MONDO:0009681 OMIM 254090

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

Severe muscle dystrophy, due to variants in the genes encoding subunits of collagen VI.

Clinical features

Generalized progressive muscle weakness is noticed very early in life. Due to the severity of the disease affected dogs are euthanized at 5-15 months of age (Steffen et al. 2015). Brands et al. (2020) "present the long-term follow up characterization of the clinical and pathological phenotype of the Landseer dogs [homozgous for the p.Glu97* variant] and a comparative analysis between dogs and humans in order to provide the Landseer dog as a useful model for human UCMD".

Molecular genetics

Steffen et al. (2015) sequenced the complete genome of an affected Landseer at 14.2x coverage. The dog had ~2.8 million homozygous variants compared to the Boxer reference genome. When concentrating on the critical intervals and comparing the data to 170 dog genomes from control dogs of other breeds, only one private non-synonymous variant remained in the affected Landseer, a nonsense variant in the COL6A1 gene on chromosome 31, c.289G>T or p.Glu97*. This variant perfectly co-segregated with the phenotype in cohort of 58 Landseer dogs including 5 affected dogs. Collagen VI is made up of three different subunits encoded by the COL6A1, COL6A2, and COL6A3 genes. Variants abolishing the function of either these genes lead to a severe muscular dystrophy phenotype in humans, the so-called Ullrich congenital muscular dystrophy. Based on the knowledge from humans, the identified canine COL6A1 nonsense variant seemed a very likely candidate causative variant for the Landseer disease. Steffen et al. (2015) genotyped 404 Newfoundland dogs and 473 dogs from diverse other breeds and did not find the mutant allele in these breeds.

Pathology

"All affected dogs showed pathological variation in muscle fiber size and most of the fibers were round to anisomorphic instead of having a (physiological) polygonal shape. Many small fibres were scattered throughout the biopsies, along with some hypercontracted fibres. Sporadically invading phagocytes grouped around degenerating fibers. Staining for acidic phosphatase showed an increase of activity, indicating degeneration to necrosis in a large number of fibres. Some biopsies correlated to an advanced stage of disease with distinct proliferation of the endomysial connective tissue and an increase of adipose tissue. These findings demonstrate different stages of muscular destruction with compensatory hypertrophy and replacement of lost fibers by connective tissue and fat cells. The histhopathological findings were typical for a muscular dystrophy. However, relatively normal immunohistochemistry findings with an anti-dystrophin antibody clearly showed that the muscular dystrophy in the Landseer dogs is different from the Duchenne/Becker type." (Steffen et al. 2015)

History

Steffen et al. (2015) described the clinics, pathology, and molecular genetics of Landseer dogs with a severe muscular dystrophy. An earlier report described a myopathic Labrador Retriever, in which antibody staining of sections from a muscle biospy showed reduced sarcolemmal collagen VI protein expression (Marioni-Henry et al. 2014). The molecular genetic defect in the Labrador Retriever was later identified to be caused by mutations in a different gene - see OMIA 002274-9615 : Muscular dystrophy, COL6A3-related in Canis lupus familiaris for more detail. This myopathic Labrador Retriever showed a milder clinical phenotype than the Landseer dogs with muscular dystrophy (Steffen et al. 2015).

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 254090 Gene · OMIM 120220

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001967-9615, 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.

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 Muscular Dystrophy, Ullrich Type (Discovered in the Landseer) 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 Muscular Dystrophy, Ullrich Type (Discovered in the Landseer) looks like in your dog's breed.
Carrier frequency by breed

Top 2 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%1%2%
Schnauzer Miniature<0.1% · n 4,635
American Staffordshire Terrier<0.1% · n 42,755
n = 47,390 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 Muscular Dystrophy, Ullrich Type (Discovered in the Landseer) is measured; phenotype outcome depends on penetrance and modifiers.
▸ Full table with Wilson 95% confidence intervals
Breed Carrier frequency n tested
Schnauzer Miniature <0.1% 4,635
American Staffordshire Terrier <0.1% 42,755
▸ 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
Landseer 25.0% 2

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

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 carrier 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:001967-9615.

  • 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:001967-9615 · Donner et al. 2023