OMIA 001481-9940 : Achromatopsia-2 in Ovis aries

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 216900

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_019460.2 (102626412..102601902) CNGA3 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Awassi Achromatopsia-2 (day blindness) CNGA3 nonsense (stop-gain) c.706C>T p.R236* 2010 19874885
Awassi Achromatopsia-2 (day blindness) CNGA3 missense CAY32647.1 c.1618G>A p.Gly540Ser 2017 28282490

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.
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.
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