OMIA:001365-9615 : Achromatopsia-3, CNGB3-related in Canis lupus familiaris (dog)

In other species: taurine cattle

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 262300 (trait) , 605080 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2002

Cross-species 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'.

Species-specific name: cone degeneration

Species-specific symbol: cd^AMAL, cd^GSPT

Mapping: Sidjanin et al. (2002) conducted a genome scan with microsatellites, and identified one microsatellite on CFA29, namely C29.002, completely linked to the disorder locus, with recombination fraction = 0 at a LOD score of 24.68.

Molecular basis: 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."

Breeds: Alaskan Husky (Dog) (VBO_0200015), Alaskan Malamute (Dog) (VBO_0200017), Miniature Australian Shepherd Dog (Dog) (VBO_0200881), Siberian Husky (Dog) (VBO_0201233).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CNGB3 cyclic nucleotide gated channel beta 3 Canis lupus familiaris 29 NC_051833.1 (33163070..32900394) CNGB3 Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
631 Alaskan Malamute (Dog) Miniature Australian Shepherd Dog (Dog) Achromatopsia (cone degeneration, hemeralopia), AMAL CNGB3 cd^AMAL deletion, gross (>20) Naturally occurring variant 29 "deletion removing all exons of canine CNGB3" 2002 12140185
27 German Shorthaired Pointer (Dog) Achromatopsia (cone degeneration, hemeralopia), GSPT CNGB3 cd^GSPT missense Naturally occurring variant CanFam3.1 29 g.32837065C>T c.784G>A p.(D262N) 2002 12140185 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool 30 Dec 2020 Chromosome corrected, thanks to Angelica K Kallenberg

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001365-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2022 Park, S.A., Rhodes, J., Iwabe, S., Ying, G.S., Pan, W., Huang, J., Komáromy, A.M. :
Quantitative and qualitative characterization of retinal dystrophies in canine models of inherited retinal diseases using spectral domain optical coherence tomography (SD-OCT). Exp Eye Res :109106, 2022. Pubmed reference: 35588783. DOI: 10.1016/j.exer.2022.109106.
2021 Genetics Committee of the American College of Veterinary Opthalmologists :
The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition , 2021.
2020 Switonski, M. :
Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. J Appl Genet 61:179-186, 2020. Pubmed reference: 32189222. DOI: 10.1007/s13353-020-00554-8.
2017 Ye, G.J., Komáromy, A.M., Zeiss, C., Calcedo, R., Harman, C.D., Koehl, K.L., Stewart, G.A., Iwabe, S., Chiodo, V.A., Hauswirth, W.W., Aguirre, G.D., Chulay, J.D. :
Safety and efficacy of AAV5 vectors expressing human or canine CNGB3 in CNGB3-mutant dogs. Hum Gene Ther Clin Dev 28:197-207, 2017. Pubmed reference: 29020838. DOI: 10.1089/humc.2017.125.
2016 Dixon, C.J. :
Achromatopsia in three sibling Labrador Retrievers in the UK. Vet Ophthalmol 19:68-72, 2016. Pubmed reference: 25752464. DOI: 10.1111/vop.12265.
2013 Komáromy, A.M., Rowlan, J.S., Corr, A.T., Reinstein, S.L., Boye, S.L., Cooper, A.E., Gonzalez, A., Levy, B., Wen, R., Hauswirth, W.W., Beltran, W.A., Aguirre, G.D. :
Transient Photoreceptor Deconstruction by CNTF Enhances rAAV-Mediated Cone Functional Rescue in Late Stage CNGB3-Achromatopsia. Mol Ther , 2013. Pubmed reference: 23568263. DOI: 10.1038/mt.2013.50.
Yeh, C.Y., Goldstein, O., Kukekova, A.V., Holley, D., Knollinger, A.M., Huson, H.J., Pearce-Kelling, S.E., Acland, G.M., Komáromy, A.M. :
Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia. BMC Genet 14:27, 2013. Pubmed reference: 23601474. DOI: 10.1186/1471-2156-14-27.
2012 Miyadera, K., Acland, G.M., Aguirre, G.D. :
Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3.
2010 Komáromy, A.M., Alexander, J.J., Rowlan, J.S., Garcia, M.M., Chiodo, V.A., Kaya, A., Tanaka, J.C., Acland, G.M., Hauswirth, W.W., Aguirre, G.D. :
Gene therapy rescues cone function in congenital achromatopsia. Hum Mol Genet 19:2581-93, 2010. Pubmed reference: 20378608. DOI: 10.1093/hmg/ddq136.
Komaromy, AM. :
Day blind sheep and the importance of large animal disease models. Vet J 185:241-242, 2010. Pubmed reference: 20061167. DOI: 10.1016/j.tvjl.2009.07.007.
2006 Seddon, JM., Hampson, EC., Smith, RI., Hughes, IP. :
Genetic heterogeneity of day blindness in Alaskan Malamutes. Anim Genet 37:407-10, 2006. Pubmed reference: 16879359. DOI: 10.1111/j.1365-2052.2006.01484.x.
2002 Sidjanin, D.J., Lowe, J.K., McElwee, J.L., Milne, B.S., Phippen, T.M., Sargan, D.R., Aguirre, G.D., Acland, G.M., Ostrander, E.A. :
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3 Human Molecular Genetics 11:1823-33, 2002. Pubmed reference: 12140185.
1971 Rubin, L.F. :
Clinical features of hemeralopia in the adult Alaskan malamute. J Am Vet Med Assoc 158:1696-8, 1971. Pubmed reference: 5314319.
Rubin, L.F. :
Hemeralopia in Alaskan Malamute pups. J Am Vet Med Assoc 158:1699-701, 1971. Pubmed reference: 5314320.
1967 Rubin, L.F., Bourns, T.K.R., Lord, L.H. :
Hemeralopia in dogs: heredity of hemeralopia in Alaskan Malamute American Journal of Veterinary Research 28:355-357, 1967. Pubmed reference: 5298491.

Edit History

  • Created by Frank Nicholas on 12 Sep 2005
  • Changed by Frank Nicholas on 07 Dec 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 19 Sep 2012
  • Changed by Frank Nicholas on 25 Apr 2013
  • Changed by Imke Tammen2 on 24 Dec 2021
  • Changed by Imke Tammen2 on 15 Jun 2024