Canine Mendelian disease record

Osteochondrodysplasia (Discovered in the Miniature Poodle)

Q: How is Osteochondrodysplasia (Discovered in the Miniature Poodle) inherited in dogs?

Osteochondrodysplasia (Discovered in the Miniature Poodle) follows a Autosomal recessive inheritance pattern. It has been observed in 9 of 266 breeds screened in the Sniff Atlas.

Q: How well studied is Osteochondrodysplasia (Discovered in the Miniature Poodle) in dogs?

OMIA curates 6 peer-reviewed references for Osteochondrodysplasia (Discovered in the Miniature Poodle). The full, linked citation list is on this page.

Osteochondrodysplasia (Discovered in the Miniature Poodle). Autosomal recessive. Observed in 9 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,660 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:001400-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

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

Information relating to this phene was initially listed under OMIA 001315-9615 : Osteochondrodysplasia in Canis lupus familiaris

Clinical features

As summarised by Neff et al. (2012): "Affected pups soon exhibit abducted hind limbs, enlarged joints, dorsoventral flattening of the rib cage, shortened and bent long bones, undershot jaws, and elongated and misshapen paws that resemble clubfoot . . . . Radiographic stippling is found at the epiphyses, reflecting aberrant conversion of cartilage to bone. The vertebrae are often beaked at their ventral surface, a clinical hallmark of several human skeletal dysplasias. The stiffness of joints that is profound in young affected dogs lessens with maturation, but mobility remains restricted and arthritis is a common sequelae."

Molecular genetics

As reported by Neff et al. (2012), "The SNP pattern [from the GWAS] suggested the presence of a spontaneous deletion" which was confirmed by FISH analysis. Further analysis revealed a 130kb deletion which "ablated all but the first exon of SLC13A1, a sodium/sulfate symporter responsible for regulating serum levels of inorganic sulfate".

Prevalence

As reported by Neff et al. (2012) "A survey of Miniature Poodle dogs from the United States provided an allele frequency of 5%, suggesting a carrier frequency of approximately 10% (assuming HWE and no ascertainment biases in sampling). This frequency may differ among other geographic subpopulations and other varieties of Poodle. Reports of the disorder in European dogs 40–50 years ago suggest the mutation is now broadly distributed."

Human analog

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

Gene · OMIM 606193

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001400-9615, 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.

Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed. · PLoS One · 2012 · PMID 23300579
Pseudoachondroplastic dysplasia in miniature poodles: clinical, radiologic, and pathologic features. · J Am Vet Med Assoc · 1980 · PMID 6987200
What's your diagnosis? · Journal of American Veterinary Medical Association · 1977
On achondroplasia in the dog. · Zentralblatt fur Veterinaermed · 1961
Familial canine chondrodysplasia faetalis (achondroplasia). · J Pathol Bacterio · 1959
A case of epiphyseal dsyplasia in a dog. · Veterinary Record · 1956

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 Osteochondrodysplasia (Discovered in the Miniature Poodle) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A

Parent B

NNClear

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 Osteochondrodysplasia (Discovered in the Miniature Poodle) looks like in your dog's breed.

Carrier frequency by breed

Top 9 well-sampled breeds (n ≥ 50)

Maximum carrier frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. 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%5%10%

Papillon4.6% · n 197

4.6%n 197

Bichon Frise2.4% · n 1,069

2.4%n 1,069

Poodle Toy2.1% · n 94

2.1%n 94

Poodle Miniature0.32% · n 3,554

0.32%n 3,554

Pomeranian<0.1% · n 5,294

<0.1%n 5,294

Chihuahua<0.1% · n 4,273

<0.1%n 4,273

Cavalier King Charles Spaniel<0.1% · n 2,243

<0.1%n 2,243

Schnauzer Miniature<0.1% · n 4,638

<0.1%n 4,638

American Staffordshire Terrier<0.1% · n 42,793

<0.1%n 42,793

n = 64,155 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 Osteochondrodysplasia (Discovered in the Miniature Poodle) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Papillon	4.6%	[2.4%, 8.5%]	197
Bichon Frise	2.4%	[1.7%, 3.5%]	1,069
Poodle Toy	2.1%	[0.6%, 7.4%]	94
Poodle Miniature	0.32%	[0.2%, 0.6%]	3,554
Pomeranian	<0.1%	[0.0%, 0.2%]	5,294
Chihuahua	<0.1%	[0.0%, 0.2%]	4,273
Cavalier King Charles Spaniel	<0.1%	[0.0%, 0.2%]	2,243
Schnauzer Miniature	<0.1%	[0.0%, 0.1%]	4,638
American Staffordshire Terrier	<0.1%	[0.0%, 0.0%]	42,793

257 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: 3
Phenotype confirmed: 2
Penetrance range: not yet quantifiable

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

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:001400-9615.
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.

Sniff Atlas v1.0.1, the source dataset for these frequencies.
Browse breeds, per-breed Mendelian profiles, including this disease in context.
OMIA entry OMIA:001400-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated June 20, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:001400-9615 · Donner et al. 2023