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
Disease-related: 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)
Breed:
Awassi (Sheep) (VBO_0001308).
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 |
|---|---|---|---|---|---|---|
| CNGA3 | cyclic nucleotide gated channel alpha 3 | Ovis aries | 3 | NC_056056.1 (102877356..102835910) | CNGA3 | Homologene, Ensembl , NCBI gene |
Variants
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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 | NC_040254.1:g.108958871C>T | XM_027965914.1:c.1618G>A | XP_027821715.1: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. (2024). OMIA:001481-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
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 | 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 29:624-635, 2022. 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
- Changed by Imke Tammen2 on 18 Jun 2024