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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:

Mendelian 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
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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.

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  • Created by Imke Tammen2 on 22 Aug 2024
  • Changed by Imke Tammen2 on 22 Aug 2024