Australian Terrier
Only 9 Australian Terriers have been tested for carrier variants (Donner 2023), too few to say what the breed carries. Only 10 dogs stand behind the atlas figures here, so little is known yet.
Also known as Aussie.
What genetic diseases do Australian Terriers carry?
From a panel of 250 Mendelian-disease variants screened in 1,054,293 dogs (Donner et al. 2023), Australian Terriers carry one of them at observable frequency. Carrier frequency is not clinical risk. Most recessive variants require two copies for disease expression; many dominant variants show incomplete penetrance. Read this as a population fingerprint of what's in the gene pool, not a per-dog prediction.
SOD1what this gene does
SOD1 is a gene that helps protect cells from damage caused by harmful molecules called free radicals.
For your dog: If your dog is a carrier of SOD1 variants, it's worth discussing with your vet, but remember carrier status doesn't mean your dog will get the disease.
What these results mean for a Australian Terrier
11.1% of Australian Terriers in the Donner 2023 cohort carried it (n=9).
- DM is a loss of function in the spinal cord that begins in adulthood and progresses to paralysis of the back legs. There is no treatment that stops it.
OMIA 000263-9615
“This is an adult onset degeneration of the spinal cord that progresses to paraplegia and tetraparesis. There is no successful treatment. A genetic test is available.” OMIA 000263-9615
- Two copies of the SOD1 variant mean at risk, not affected. Some dogs with two copies never show signs.
OMIA 000263-9615
“some homozygous mutant dogs had no signs of degenerative myelopathy, which suggests incomplete penetrance or other causative loci” OMIA 000263-9615
- One copy makes a dog a carrier. In the study that found the variant, every affected dog tested had two copies.
OMIA 000263-9615
“All affected dogs tested were homozygous mutant.” OMIA 000263-9615
What to do
A DNA result is not a diagnosis. Take the result, and any change in how the dog walks, to a veterinarian.
No test, or a mix
Without a test nobody can say how many copies a dog has. A breed's carrier frequency describes the breed, not this dog.
Other names
The Australian Terrier is also recorded as Aussie.
Identified as Australian Terrier (VBO:0200098) in the Vertebrate Breed Ontology (Mullen et al. 2025, CC-BY 4.0) · registry IDs FCI 8 · iDog 17 · VeNom 19061.
For researchers Population genetics, disease models and every recorded condition Open the research detail for the Australian Terrier
In the atlas, the Australian Terrier clusters consistently as Australian Terrier (100% of the 10 dogs here). Genetic diversity is high (mean heterozygosity 0.3924), reflecting either a mixed-breed cluster or breeds with broad genetic backgrounds.
Mean heterozygosity is 0.392, notably high, indicates broad genetic background. High breed predictability score (2.08), individual dogs of this breed reliably cluster together genetically. Only 10 dogs of this breed in the atlas, modestly sampled.
What the atlas genotypes say about Australian Terrier
Computed from the 14,478 CanVAS dogs in the Atlas, on an imputed genotype backbone: 77,215 directly typed sites per dog, imputed to 9.67 million variants.
The confidence below counts dogs, not reads: it is the size of the sample, and it is separate from how the genotypes were measured.
Not enough dogs in the atlas yet (n=10) for a reliable diversity figure. It fills in as more are added.
What does genetic diversity mean?
How varied a breed's gene pool is — the share of gene spots where a typical dog of the breed carries two different versions rather than two identical ones.
How to read it: Higher = more diverse. Among well-sampled breeds it ranges roughly 0.22 (least diverse) to 0.33 (most diverse).
Diversity is a strength, not a verdict on any individual dog. Lower diversity means it's worth paying attention to recessive-risk testing — not that a dog is doomed.
Not enough dogs in the atlas yet (n=10) to resolve cluster structure. It fills in as more are added.
What does within-breed variation mean?
How much individual dogs within the breed differ from each other genetically.
How to read it: Higher = more internal variety among individuals of the breed.
Sensitive to how many dogs of the breed we've sampled.
Australian Terriers are a natural model for human disease
Because the same genes cause the same conditions across species, the inherited conditions documented in Australian Terriers help researchers understand, and work toward treating, the human diseases they model. This is the dog advancing human medicine. The breed models the human disease; it does not have it, and this is not a prediction for your dog.
- Caffey disease, modeled by the breed's Craniomandibular osteopathy, generic , the same underlying biology.
Every condition recorded in the Australian Terrier
Beyond the testable carriers above, OMIA's literature catalogue records 1 genetic conditions in the Australian Terrier, 1 of which have a known human equivalent. This is the documented landscape across all Australian Terriers ever studied, not a prediction for any one dog.
- Craniomandibular osteopathy, generic MultifactorialHuman equivalent: Caffey disease
Where every number on this page came from.
This page draws on three primary data sources. Carrier frequencies for the Mendelian section come from Donner et al. 2023 (CC-BY-4.0). We grade these data at evidence Limited because the cohort is a direct-to-consumer ascertainment, which biases toward owners who chose to test their dogs. The panel also uses tag-SNP proxies for some variants rather than direct causal-variant assays. Limited is a study-design grade, not a quality grade: the Donner cohort is the largest open canine-genotype dataset in existence and we are grateful for it. We rate the confounding MEDIUM.
Population-genetic dimensions (heterozygosity, intra-breed PCA distance, nearest neighbors, trait-locus frequencies) come from CanVAS (Brundage 2026), harmonized through the Sniff Atlas. The exact release date and verification commit are pinned at the bottom of the page so a researcher can trace a number back to a specific snapshot. The disease-gene-variant graph comes from OMIA (Online Mendelian Inheritance in Animals; Nicholas, Tammen, and the Sydney Informatics Hub at the Sydney School of Veterinary Science, The University of Sydney; retrieved April 2026, DOI 10.25910/2AMR-PV70).
What this page does not yet have. Inheritance modes and per-disease penetrance evidence from Donner 2023 are in the structured data for every variant the panel covers. Mondo, OMIM, Ensembl, and HGNC cross-references live on the gene and disease pages this page links to, rather than being repeated here. What is still absent from this breed page is anything not in the cited panel, and each such gap carries its cause where it appears.
How to cite this page. The computed dimensions on this page are derived from the open Sniff Atlas v1.0.1 (Gehring 2026, doi:10.5281/zenodo.20566358, CC-BY 4.0). Full citation formats including BibTeX, RIS, and CITATION.cff at sniff.world/cite.
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Lived experience, kept beside the science.We have 10 australian terriers. We do not have yours.
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- 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. doi:10.1371/journal.pgen.1010651
- Brundage DM (2026). CanVAS: A Harmonized and Imputed Canine Variant Atlas. bioRxiv. doi:10.64898/2026.04.13.718238
- Nicholas, F.W., Tammen, I., & Sydney Informatics Hub. (2026). Online Mendelian Inheritance in Animals (OMIA) [dataset]. The University of Sydney. https://omia.org. doi:10.25910/2AMR-PV70 (retrieved April 2026).