OMIA:003053-9544 : Neuropsychiatric disorder risk factor, DISC1-related in Macaca mulatta (Rhesus monkey) |
In other species: crab-eating macaque
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 605210 (gene) , 604906 (trait)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2025
Molecular basis: Zhang et al. (2025) sequenced "919 captive Chinese rhesus macaques (CRM) while assessing 52 phenotypic traits. ... [The authors] identify DISC1 (p.Arg517Trp) as a genetic risk factor for neuropsychiatric disorders, with macaques carrying this deleterious allele exhibiting impairments in working memory and cortical architecture.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| DISC1 | DISC1 scaffold protein | Macaca mulatta | 1 | NC_133406.1 (17333188..17003887) | DISC1 | 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 | Variant Type | Variant Effect | Source of Genetic Variant | AVCG Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1941 | Neuropsychiatric disorder, risk factor | DISC1 | substitution | missense | Naturally occurring variant | Not currently evaluated | Mmul_10 | 1 | NC_041754.1:g.17202714G>A | NM_001114355.1c.1549 C>T | NP_001107827.1:p.(R517W) | 2025 | 41027928 |
* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003053-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Zhang, B.L., Chen, Y., Zhang, Y., Qiao, Y., Wu, Y., Zhang, Y., Lu, Y., You, X., Li, Y., Huang, H.D., Wang, Q., Li, Y., Wang, Y., Xiao, W., Duan, H., Qiu, M.H., Chen, N.H., Yu, X., Yang, M.M., Lv, L., Cooper, D.N., Zheng, P., Yao, Y.G., Liu, N., Wang, J.H., Wu, D.D. : |
| Forward and reverse genomic screens enhance the understanding of phenotypic variation in a large Chinese rhesus macaque cohort. Nat Commun 16:8703, 2025. Pubmed reference: 41027928. DOI: 10.1038/s41467-025-63747-x. |
Edit History
- Created by Imke Tammen on 24 Apr 2026
- Changed by Imke Tammen on 04 Oct 2026