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Canine Mendelian disease record

Cone Degeneration (Discovered in the Alaskan Malamute)

Cone Degeneration (Discovered in the Alaskan Malamute). Autosomal recessive. Observed in 5 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:001365-9615
Autosomal recessive
Source dataset
Sniff Atlas v1.0.1 / DOI
The human connection

A model of human achromatopsia 3

Dogs with this condition carry a change in CNGB3. In people, changes in the same gene cause achromatopsia 3. 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 achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene.

In humans it is also called: ACHM3, ACHM1 (formerly), achromatopsia caused by mutation in CNGB3, achromatopsia type 3, CNGB3 achromatopsia.

MONDO:0009875 OMIM 262300

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

This disorder has been initially renamed in OMIA on the basis of the review by Miyadera et al. (2012). In 2021, entries for Achromatopsia (cone degeneration, hemeralopia), AMAL (OMIA 001365-9615) and Achromatopsia (cone degeneration, hemeralopia), GSPT (OMIA 001676-9615) were merged and renamed 'Achromatopsia-3, CNGB3-related'.

Molecular genetics

A causative mutation for this disorder was identified via a comparative positional cloning approach. First, as described in the Mapping section, a genome scan showed that the disorder locus is in a region of chromosome CFA29. The homologous region of the human genome (HSA8q21-22) contains the gene for cyclic nucleotide-gated channel β-subunit (CNBG3), mutations in which cause a very similar disorder in humans (see the OMIM entry above). Sequencing of this strong comparative positional candidate gene enabled the same authors to report that this disorder in Alaskan Malamute [AM]-derived dogs is due to a "deletion removing all exons of canine CNGB3", and in German Short-hair Pointers [GS] due to a "missense mutation in exon 6 (D262N, nucleotide 784) within a conserved region of" the CNGB3 gene, which encodes cyclic nucleotide-gated channel beta-subunit. Interestingly, Yeh et al. (2013) reported homozygosity for exactly the same deletion variant observed in the Alaskan Malamutes in affected dogs of the miniature Australian Shepherd [MAS] breed; and heterozygosity for exactly the same deletion mutation in two other breeds (Siberian husky and Alaskan sled dogs). Importantly, these same authors concluded "All affected alleles were shown to be IBD, strongly suggesting an affected founder effect. Since the MAS is not known to be genetically related to the AM, other breeds may potentially carry the same cd-allele and be affected by achromatopsia."

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 262300 Gene · OMIM 605080

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001365-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

Signs & cross-references

How it presents

Catalogued in the Mondo disease ontology (the cross-species disease identity used by the Monarch Initiative) as achromatopsia 3 (MONDO:0009875).

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. Showing 6 of 19.

  6. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition · https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf · 2021

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 Cone Degeneration (Discovered in the Alaskan Malamute) 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 Cone Degeneration (Discovered in the Alaskan Malamute) looks like in your dog's breed.
Carrier frequency by breed

Top 5 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%
Alaskan Malamute0.50% · n 504
German Shorthaired Pointer0.28% · n 1,252
Siberian Husky<0.1% · n 9,035
Labrador Retriever<0.1% · n 16,856
American Staffordshire Terrier<0.1% · n 42,793
n = 70,440 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 Cone Degeneration (Discovered in the Alaskan Malamute) is measured; phenotype outcome depends on penetrance and modifiers.
▸ Full table with Wilson 95% confidence intervals
Breed Carrier frequency n tested
Alaskan Malamute 0.50% 504
German Shorthaired Pointer 0.28% 1,252
Siberian Husky <0.1% 9,035
Labrador Retriever <0.1% 16,856
American Staffordshire Terrier <0.1% 42,793

261 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:001365-9615.

  • 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:001365-9615 · Donner et al. 2023