Achromatopsia-3, CNGB3-related
- Phene ID
- 4819
- Name
- Achromatopsia-3, CNGB3-related
- Phene Name
- N/A
- OMIA ID
- 1365
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2021
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1400 | Achromatopsia | 388270854 | 1 | 14 | NC_037341.1:g.76011964G>A | XM_015474554.2:c.751G>A | XP_015330040.2:p.(D251N) |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Brown Swiss (Cattle) | 59 | 9913 | http://purl.obolibrary.org/obo/VBO_0000166 |
| Original Swiss Brown (Cattle) | 1500 | 9913 | http://purl.obolibrary.org/obo/VBO_0000328 |
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."
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.
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."