OMIA:001365-9913 : Achromatopsia-3, CNGB3-related in Bos taurus
In other species: dog
Categories: Vision / eye phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2021
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 symbol: OH1
Species-specific description: Häfliger et al. (2021) "characterize the phenotype and the genetic aetiology of a recessive form of congenital day-blindness observed in several cases of purebred Original Braunvieh cattle. ... Achromatopsia is a monogenic Mendelian disease characterized by the loss of cone photoreceptor function resulting in day-blindness, total color-blindness, and decreased central visual acuity."
Inheritance: Häfliger et al. (2021) "available pedigree records of all 12 cases were analyzed and multiple inbreeding loops between the parents were found ... . We detected a single common ancestor occurring 8–11 generations ago. Due to the obvious history of inbreeding, a recessive inherited condition was considered.
Molecular basis: Häfliger et al. (2021): "After SNP genotyping and subsequent homozygosity mapping with twelve affected cattle, we performed whole-genome sequencing and variant calling of three cases. We identified a single missense variant in the bovine CNGB3 gene situated in a ~2.5 Mb homozygous genome region on chromosome 14 shared between all cases. All affected cattle were homozygous carriers of the p.Asp251Asn mutation that was predicted to be deleterious, affecting an evolutionary conserved residue."
Clinical features: Häfliger et al. (2021): "Electroretinography in an affected calf revealed absent cone-mediated function, whereas the rods continue to function normally. Brain areas involved in vision were morphologically normal."
Pathology: Häfliger et al. (2021): "When targeting cones by immunofluorescence, a decrease in cone number and an accumulation of beta subunits of cone cyclic-nucleotide gated channel (CNGB3) in the outer plexiform layer of affected animals was obvious."
Prevalence: Häfliger et al. (2021) estimated "an allele frequency of the deleterious allele of ~8%."
Breed: Original Schweizer Braunvieh, Switzerland (Cattle) (VBO_0003764).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CNGB3||cyclic nucleotide gated channel beta 3||Bos taurus||14||NC_037341.1 (75914395..76103542)||CNGB3||Homologene, Ensembl , NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1400||Brown Swiss (Cattle)||Achromatopsia||CNGB3||OH1||missense||Naturally occurring variant||ARS-UCD1.2||14||g.76011964G>A||c.751G>A||p.(D251N)||XM_015474554.2: c.751G>A, XP_015330040.2: p.Asp251Asn ENSBTAT00000065296.2:c.751G>A ENSBTAP00000054173.2:p.Asp251Asn||rs716218235||rs716218235||2021||34830323|
Cite this entry
|2021||Häfliger, I.M., Marchionatti, E., Stengård, M., Wolf-Hofstetter, S., Paris, J.M., Jacinto, J.G.P., Watté, C., Voelter, K., Occelli, L.M., Komáromy, A.M., Oevermann, A., Goepfert, C., Borgo, A., Roduit, R., Spengeler, M., Seefried, F.R., Drögemüller, C. :|
|CNGB3 missense variant causes recessive achromatopsia in original Braunvieh cattle. Int J Mol Sci 22:12440, 2021. Pubmed reference: 34830323 . DOI: 10.3390/ijms222212440.|
- Changed by Imke Tammen2 on 24 Dec 2021
- Created by Imke Tammen2 on 24 Dec 2021
- Changed by Frank Nicholas on 10 Nov 2022