OMIA:001481-9940 : Achromatopsia-2, CNGA3-related in Ovis aries (sheep)

In other species: dog

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 216900 (trait) , 600053 (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: 2010

Species-specific name: Day blindness

Molecular basis: In a family of improved Awassi sheep, "all affected lambs were homozygous for a mutation in the CNGA3 gene that changes amino acid R236 to a stop codon" (Reicher et al., 2010) Gootwine et al. (2017) reported a second likely causal variant in a different family of local Awassi sheep, namely a missense mutation c.1618G>A, p.Gly540Ser. Supporting evidence included "subretinal delivery of the intact human CNGA3 gene using an adeno-associated viral vector (AAV) restored photopic vision in two affected p.Gly540Ser homozygous rams".

Pathology: "diminished function of cones but not of rods" (Reicher et al., 2009)

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CNGA3 cyclic nucleotide gated channel alpha 3 Ovis aries 3 NC_056056.1 (102877356..102835910) CNGA3 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
1016 Awassi (Sheep) Achromatopsia-2 (day blindness) CNGA3 missense Naturally occurring variant Oar_rambouillet_v1.0 3 g.108958871C>T c.1618G>A p.(G540S) 2017 28282490 Genomic coordinate on Oar_v4.0 (g.102602387G>A) kindly provided by Eyal Seroussi via Elisha Gootwine. The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager & Shernae Woolley, EMAI, NSW Department of Primary Industries.
317 Awassi (Sheep) Achromatopsia-2 (day blindness) CNGA3 nonsense (stop-gain) Naturally occurring variant Oori1 scaffold00739 3 g.263324C>T c.706C>T p.(R236*) In a pers. comm. to FN via Elisha Gootwine, Eyal Seroussi advises that the Oar_v4.0 assembly has errors in the region of of this mutation, such that it cannot be mapped onto that assembly. It can, however, be mapped on to the Ovis aries musimon sequence: "Exon 8 mutation is at position 263,324 in Ovis aries musimon unplaced genomic scaffold, alternate assembly Oori1 scaffold00739 (Sequence ID: NW_011942977.1 Length: 1056687)" 2010 19874885

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:001481-9940: 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.

2021 Ross, M., Obolensky, A., Averbukh, E., Desrosiers, M., Ezra-Elia, R., Honig, H., Yamin, E., Rosov, A., Dvir, H., Gootwine, E., Banin, E., Dalkara, D., Ofri, R. :
Outer retinal transduction by AAV2-7m8 following intravitreal injection in a sheep model of CNGA3 achromatopsia. Gene Ther , 2021. Pubmed reference: 34853444. DOI: 10.1038/s41434-021-00306-1.
2020 Ross, M., Ofri, R., Aizenberg, I., Abu-Siam, M., Pe'er, O., Arad, D., Rosov, A., Gootwine, E., Dvir, H., Honig, H., Obolensky, A., Averbukh, E., Banin, E., Gantz, L. :
Naturally-occurring myopia and loss of cone function in a sheep model of achromatopsia. Sci Rep 10:19314, 2020. Pubmed reference: 33168939. DOI: 10.1038/s41598-020-76205-z.
2018 Ofri, R., Averbukh, E., Ezra-Elia, R., Ross, M., Honig, H., Obolensky, A., Rosov, A., Hauswirth, W.W., Gootwine, E., Banin, E. :
Six years and counting: Restoration of photopic retinal function and visual behavior following gene augmentation therapy in a sheep model of CNGA3 achromatopsia. Hum Gene Ther 29:1376-1386, 2018. Pubmed reference: 29926749. DOI: 10.1089/hum.2018.076.
2017 Gootwine, E., Abu-Siam, M., Obolensky, A., Rosov, A., Honig, H., Nitzan, T., Shirak, A., Ezra-Elia, R., Yamin, E., Banin, E., Averbukh, E., Hauswirth, W.W., Ofri, R., Seroussi, E. :
Gene Augmentation Therapy for a Missense Substitution in the cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in Day-Blind Sheep. Invest Ophthalmol Vis Sci 58:1577-1584, 2017. Pubmed reference: 28282490. DOI: 10.1167/iovs.16-20986.
2015 Banin, E., Gootwine, E., Obolensky, A., Ezra-Elia, R., Ejzenberg, A., Zelinger, L., Honig, H., Rosov, A., Yamin, E., Sharon, D., Averbukh, E., Hauswirth, W.W., Ofri, R. :
Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia. Mol Ther 23:1423-33, 2015. Pubmed reference: 26087757. DOI: 10.1038/mt.2015.114.
2014 Ezra-Elia, R., Banin, E., Honig, H., Rosov, A., Obolensky, A., Averbukh, E., Hauswirth, W.W., Gootwine, E., Ofri, R. :
Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutation. Doc Ophthalmol 129:141-50, 2014. Pubmed reference: 25204753. DOI: 10.1007/s10633-014-9458-6.
2010 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.
Reicher, S., Seroussi, E., Gootwine, E. :
A mutation in gene CNGA3 is associated with day blindness in sheep. Genomics 95:101-104, 2010. Pubmed reference: 19874885. DOI: 10.1016/j.ygeno.2009.10.003.
Shamir, MH., Ofri, R., Bor, A., Brenner, O., Reicher, S., Obolensky, A., Averbukh, E., Banin, E., Gootwine, E. :
A novel day blindness in sheep: Epidemiological, behavioural, electrophysiological and histopathological studies. Vet J 185:130-137, 2010. Pubmed reference: 19546015. DOI: 10.1016/j.tvjl.2009.05.029.

Edit History

  • Created by Frank Nicholas on 02 Dec 2009
  • Changed by Frank Nicholas on 14 Sep 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 30 Aug 2016
  • Changed by Frank Nicholas on 02 Oct 2018
  • Changed by Imke Tammen2 on 14 Jan 2022