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Canine Mendelian disease record

Ichthyosis (Discovered in the Golden Retriever)

Ichthyosis (Discovered in the Golden Retriever). Autosomal recessive. Observed in 17 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,665 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:001588-9615
Autosomal recessive
Source dataset
Sniff Atlas v1.0.1 / DOI
The human connection

A model of human autosomal recessive congenital ichthyosis 10

This is the canine counterpart of autosomal recessive congenital ichthyosis 10 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 autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.

In humans it is also called: ARCI10, ichthyosis, congenital, autosomal recessive 10.

MONDO:0014011 OMIM 615024

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

At the time when the causal mutation for this disorder was discovered to be in the PNPLA1 gene in Golden Retrievers, this gene had not been implicated in any human cases of the same disorder nor in any other diseases. Having made the canine discovery, Grall et al. (2012) then sequenced the PNPLA1 gene in human families with affected individuals, and discovered "one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families". This is an original way to discover clinically-important human mutations: to start by identifying what appear to be homologous disorders in spontaneous animal models, to identify the causal mutation in the animal model, and then use such knowledge to inform human medicine and also benefit veterinary medicine. (Thanks to Catherine André and Judith Fischer for their suggestions to FN in relation to this and other sections of this page; 27 January 2012)

Molecular genetics

The Golden Retriever causal mutation was reported by Grall et al. (2012) to be an "insertion-deletion (indel) mutation in PNPLA1 that leads to a premature stop codon in all affected golden retriever dogs". Using the genetic variant nomeclature as of 2015, the causative variant can be described as c.1445_1447delinsTACTACTA or p.N482Ifs*11 (omia.variant:616).
Rietmann et al. (2025) conducted whole genome sequencing in a Labrador retriever with "generalised scaling and histological laminar orthokeratotic hyperkeratosis" and "identified a 6099-bp duplication spanning three internal exons of the PNPLA1 gene, which is predicted to result in an altered C-terminal tail of the protein, NP_001277038.2:p.(E558Lfs*17) [omia.variant:1775] as likely causal variant." 

Genetic testing

A genetic test for omia.variant:616 has been licenced to Antagene, Lyon, France. The genetic test for omia.variant:1775 is not protected by a patent. It is offered under the test designation ichthyosis 3 (Ich3) by the VGL of UC Davis.

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 615024 Gene · OMIM 612121

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001588-9615, 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 18.

  1. ★
    PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. · Nat Genet · 2012 · PMID 22246504

    Why is this an OMIA landmark paper? It shows how a discovery in animals can lead to important discoveries concerning humans. Having identified the causal mutation of this disorder in dogs, as being an insertion-deletion mutation in the PNPLA1 gene, the authors then showed that some cases of the homologous disorder in humans are due to mutations in the human PNPLA1 gene, this being a gene not previously implicated in human disorders.

  6. Genetics of inherited skin disorders in dogs. · Vet J · 2022 · PMID 34861369

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 Ichthyosis (Discovered in the Golden Retriever) 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 Ichthyosis (Discovered in the Golden Retriever) looks like in your dog's breed.
Carrier frequency by breed

Top 17 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%15%30%
Golden Retriever27.5% · n 12,881
Poodle Standard0.29% · n 4,203
Labrador Retriever0.20% · n 16,856
Poodle Miniature0.18% · n 3,555
Rhodesian Ridgeback0.15% · n 323
German Shorthaired Pointer0.12% · n 1,252
Great Pyrenees0.10% · n 1,985
Rottweiler<0.1% · n 4,718
Weimaraner<0.1% · n 647
Border Collie<0.1% · n 6,714
Saint Bernard<0.1% · n 721
German Shepherd<0.1% · n 15,648
Bernese Mountain Dog<0.1% · n 955
American Staffordshire Terrier<0.1% · n 42,793
Great Dane<0.1% · n 3,266
n = 116,517 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 Ichthyosis (Discovered in the Golden Retriever) is measured; phenotype outcome depends on penetrance and modifiers.
▸ Full table with Wilson 95% confidence intervals
Breed Carrier frequency n tested
Golden Retriever 27.5% 12,881
Poodle Standard 0.29% 4,203
Labrador Retriever 0.20% 16,856
Poodle Miniature 0.18% 3,555
Rhodesian Ridgeback 0.15% 323
German Shorthaired Pointer 0.12% 1,252
Great Pyrenees 0.10% 1,985
Rottweiler <0.1% 4,718
Weimaraner <0.1% 647
Border Collie <0.1% 6,714
Saint Bernard <0.1% 721
German Shepherd <0.1% 15,648
Bernese Mountain Dog <0.1% 955
American Staffordshire Terrier <0.1% 42,793
Great Dane <0.1% 3,266
Beagle <0.1% 5,292
Siberian Husky <0.1% 9,035

249 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
1
Phenotype confirmed
1
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:001588-9615.

  • 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:001588-9615 · Donner et al. 2023