OMIA:002871-9544 : Optic atrophy, OPA1-related in Macaca mulatta (Rhesus monkey) |
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 605290 (gene) , 165500 (trait) , 125250 (trait)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal dominant
Disease-related: unknown
Key variant known: yes
Year key variant first reported: 2024
Molecular basis: Wang et al. 2024 "conduct targeted-sequencing on 1845 individuals for 374 genes linked to inherited human retinal and neurodevelopmental diseases. We identify over 47,000 single nucleotide variants ... . ... Through phenotyping of macaques carrying a pathogenic OPA1:p.A8S variant, we identify a genetic model of autosomal dominant optic atrophy."
Clinical features: Wang et al. (2024) "The most severely affected macaque was a 28-year-old female who displayed marked optic nerve head atrophy and significantly reduced peripapillary retinal nerve fiber layer (RNFL) thickness across nearly all regions in comparison to age-, sex-matched control macaque ... . Furthermore, a significant decrease was observed in peripapillary RNFL thickness in the superotemporal region of eight heterozygous macaques carrying the mutation compared to eight age-, sex-matched control macaques."
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
OPA1 | OPA1 mitochondrial dynamin like GTPase | Macaca mulatta | 2 | NC_041755.1 (4365186..4265540) | OPA1 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1715 | Optic atrophy | OPA1 | missense | Naturally occurring variant | Mmul_10 | 2 | NC_041755.1:g.4364931C>A | XM_015132523.2:c.22G>T | XP_014988009.1:p.(A8S) | 2024 | 38969634 |
Clinical synopsis/links to phenotypes
Variant | Phenotype(s) | References (Pubmed ID) |
---|---|---|
1715 |
MP:0001059: optic nerve atrophy
MP:0014248: thin retina nerve fiber layer |
38969634 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002871-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
2024 | Wang, J., Wang, M., Moshiri, A., Harris, R.A., Raveendran, M., Nguyen, T., Kim, S., Young, L., Wang, K., Wiseman, R., O'Connor, D.H., Johnson, Z., Martinez, M., Montague, M.J., Sayers, K., Lyke, M., Vallender, E., Stout, T., Li, Y., Thomasy, S.M., Rogers, J., Chen, R. : |
Genetic diversity of 1,845 rhesus macaques improves genetic variation interpretation and identifies disease models. Nat Commun 15:5658, 2024. Pubmed reference: 38969634. DOI: 10.1038/s41467-024-49922-6. |
Edit History
- Created by Imke Tammen2 on 22 Aug 2024
- Changed by Imke Tammen2 on 22 Aug 2024