OMIA:000485-9544 : Huntington disease in Macaca mulatta (Rhesus monkey) |
In other species: crab-eating macaque , pig , sheep
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 143100 (trait) , 613004 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2008
Species summary:
Yang et al. (2008) developed "a transgenic model of HD in a rhesus macaque that expresses polyglutamine-expanded HTT". Resultant animals are genetically-modified organisms (GMO).
Khampang et al. (2021) "report a novel stem cell model that replicates genome instability and CAG repeat expansion in in vitro derived HD monkey spermatogenic cells."
Ryu et al. (2024) used CRISPR/Cas9 technology to introduce "an expanded CAG repeat into the HTT gene in rhesus macaque embryos. ... 15% of the embryos carried an expanded CAG repeat." (GMO)
[IT thanks Alexandra Schaening for contributions to this entry in September 2026]
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| HTT | huntingtin | Macaca mulatta | 5 | NC_133410.1 (3255755..3422522) | HTT | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1935 | Huntington disease | HTT | repeat variation | Transgenesis via viral vectors | Not currently evaluated | transgenesis via lentiviruses expressing exon 1 of the human HTT gene with 84 CAG repeats | 2008 | 18488016 |
* 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.
Contact us
If you notice anything missing or in need of change, please contact us at: [email protected].
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:000485-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2025 | Petraityte, G., van Rijswijk, J., Liguore, W.A., McBride, J.L., Verhoye, M., Bertoglio, D., Weiss, A.R., Adhikari, M.H. : |
| Longitudinal investigation of structural and resting-state effective connectivity alterations in a non-human primate model of Huntington's disease. Neurobiol Dis 217:107154, 2025. Pubmed reference: 41135630. DOI: 10.1016/j.nbd.2025.107154. | |
| Petraityte, G., van Rijswijk, J., Liguore, W.A., McBride, J.L., Verhoye, M., Bertoglio, D., Weiss, A.R., Adhikari, M.H. : | |
| Longitudinal investigation of structural and resting-state effective connectivity alterations in a non-human primate model of Huntington's disease. bioRxiv , 2025. Pubmed reference: 40777463. DOI: 10.1101/2025.07.18.665554. | |
| 2024 | Han, B., Liang, W., Li, X.J., Li, S., Yan, S., Tu, Z. : |
| Large animal models for Huntington's disease research. Zool Res 45:2095-8137(2024)02-0275-09:275-283, 2024. Pubmed reference: 38485497. DOI: 10.24272/j.issn.2095-8137.2023.199. | |
| Pan, M.T., Zhang, H., Li, X.J., Guo, X.Y. : | |
| Genetically modified non-human primate models for research on neurodegenerative diseases. Zool Res 45:2095-8137(2024)02-0263-12:263-274, 2024. Pubmed reference: 38287907. DOI: 10.24272/j.issn.2095-8137.2023.197. | |
| Ryu, J., Statz, J.P., Chan, W., Oyama, K., Custer, M., Wienisch, M., Chen, R., Hanna, C.B., Hennebold, J.D. : | |
| Generation of rhesus macaque embryos with expanded CAG trinucleotide repeats in the Huntingtin gene. Cells 13:829, 2024. Pubmed reference: 38786052. DOI: 10.3390/cells13100829. | |
| 2023 | Bertoglio, D., Weiss, A.R., Liguore, W., Martin, L.D., Hobbs, T., Templon, J., Srinivasan, S., Dominguez, C., Munoz-Sanjuan, I., Khetarpal, V., Verhaeghe, J., Staelens, S., Link, J., Liu, L., Bard, J.A., McBride, J.L. : |
| In vivo cerebral imaging of mutant huntingtin aggregates using 11C-CHDI-180R PET in a nonhuman primate model of Huntington disease. J Nucl Med 64:1581-1587, 2023. Pubmed reference: 37591545. DOI: 10.2967/jnumed.123.265569. | |
| Upadhayay, S., Jamwal, S., Kumar, P. : | |
| Animal models of Huntington's disease and their applicability to novel drug discovery and development. Expert Opin Drug Discov 18:527-538, 2023. Pubmed reference: 37042034. DOI: 10.1080/17460441.2023.2201493. | |
| Weiss, A.R., Liguore, W.A., Brandon, K., Wang, X., Liu, Z., Kroenke, C.D., McBride, J.L. : | |
| Alterations of fractional anisotropy throughout cortico-basal ganglia gray matter in a macaque model of Huntington's Disease. Curr Res Neurobiol 4:100090, 2023. Pubmed reference: 37397804. DOI: 10.1016/j.crneur.2023.100090. | |
| 2022 | Weiss, A.R., Liguore, W.A., Brandon, K., Wang, X., Liu, Z., Domire, J.S., Button, D., Srinivasan, S., Kroenke, C.D., McBride, J.L. : |
| A novel rhesus macaque model of Huntington's disease recapitulates key neuropathological changes along with motor and cognitive decline. Elife 11:e77568, 2022. Pubmed reference: 36205397. DOI: 10.7554/eLife.77568. | |
| 2021 | Khampang, S., Parnpai, R., Mahikul, W., Easley, C.A., Cho, I.K., Chan, A.W.S. : |
| CAG repeat instability in embryonic stem cells and derivative spermatogenic cells of transgenic Huntington's disease monkey. J Assist Reprod Genet 38:1215-1229, 2021. Pubmed reference: 33611676. DOI: 10.1007/s10815-021-02106-3. | |
| Yang, W., Chen, X., Li, S., Li, X.J. : | |
| Genetically modified large animal models for investigating neurodegenerative diseases. Cell Biosci 11:218, 2021. Pubmed reference: 34933675. DOI: 10.1186/s13578-021-00729-8. | |
| 2020 | Howland, D., Ellederova, Z., Aronin, N., Fernau, D., Gallagher, J., Taylor, A., Hennebold, J., Weiss, A.R., Gray-Edwards, H., McBride, J. : |
| Large animal models of Huntington's disease: What we have learned and where we need to go next. J Huntingtons Dis 9:201-216, 2020. Pubmed reference: 32925082. DOI: 10.3233/JHD-200425. | |
| 2019 | Cho, I.K., Yang, B., Forest, C., Qian, L., Chan, A.W.S. : |
| Amelioration of Huntington's disease phenotype in astrocytes derived from iPSC-derived neural progenitor cells of Huntington's disease monkeys. PLoS One 14:e0214156, 2019. Pubmed reference: 30897183. DOI: 10.1371/journal.pone.0214156. | |
| Clever, F., Cho, I.K., Yang, J., Chan, A. : | |
| Progressive polyglutamine repeat expansion in peripheral blood cells and sperm of transgenic Huntington's disease monkeys. J Huntingtons Dis 8:443-448, 2019. Pubmed reference: 31561381. DOI: 10.3233/JHD-190359. | |
| Goodnight, A.V., Kremsky, I., Khampang, S., Jung, Y.H., Billingsley, J.M., Bosinger, S.E., Corces, V.G., Chan, A.W.S. : | |
| Chromatin accessibility and transcription dynamics during in vitro astrocyte differentiation of Huntington's Disease Monkey pluripotent stem cells. Epigenetics Chromatin 12:67, 2019. Pubmed reference: 31722751. DOI: 10.1186/s13072-019-0313-6. | |
| 2018 | Hunter, C.E., Pongos, A.L., Chi, T.Y., Payne, C., Stroud, F.C., Chan, A.W.S. : |
| Longitudinal anthropometric assessment of rhesus macaque (Macaca mulatta) model of Huntington disease. Comp Med 68:163-167, 2018. Pubmed reference: 29663942. | |
| Snyder, B.R., Chan, A.W.S. : | |
| Progress in developing transgenic monkey model for Huntington's disease. J Neural Transm (Vienna) 125:401-417, 2018. Pubmed reference: 29127484. DOI: 10.1007/s00702-017-1803-y. | |
| 2017 | Kunkanjanawan, T., Carter, R., Ahn, K.S., Yang, J., Parnpai, R., Chan, A.W.S. : |
| Induced pluripotent HD monkey stem cells derived neural cells for drug discovery. SLAS Discov 22:696-705, 2017. Pubmed reference: 28027448. DOI: 10.1177/2472555216685044. | |
| Meng, Y., Jiang, J., Bachevalier, J., Zhang, X., Chan, A.W. : | |
| Developmental whole brain white matter alterations in transgenic Huntington's disease monkey. Sci Rep 7:379, 2017. Pubmed reference: 28336929. DOI: 10.1038/s41598-017-00381-8. | |
| 2016 | Raper, J., Bosinger, S., Johnson, Z., Tharp, G., Moran, S.P., Chan, A.W.S. : |
| Increased irritability, anxiety, and immune reactivity in transgenic Huntington's disease monkeys. Brain Behav Immun 58:S0889-1591(16)30198-2:181-190, 2016. Pubmed reference: 27395434. DOI: 10.1016/j.bbi.2016.07.004. | |
| 2015 | Chang, R., Liu, X., Li, S., Li, X.J. : |
| Transgenic animal models for study of the pathogenesis of Huntington's disease and therapy. Drug Des Devel Ther 9:2179-88, 2015. Pubmed reference: 25931812. DOI: 10.2147/DDDT.S58470. | |
| Li, X.J., Li, S. : | |
| Large Animal Models of Huntington's Disease. Curr Top Behav Neurosci 22:149-60, 2015. Pubmed reference: 24048953. DOI: 10.1007/7854_2013_246. | |
| Moran, S., Chi, T., Prucha, M.S., Ahn, K.S., Connor-Stroud, F., Jean, S., Gould, K., Chan, A.W. : | |
| Germline transmission in transgenic Huntington's disease monkeys. Theriogenology 84:S0093-691X(15)00143-0:277-85, 2015. Pubmed reference: 25917881. DOI: 10.1016/j.theriogenology.2015.03.016. | |
| 2014 | Chan, A.W., Xu, Y., Jiang, J., Rahim, T., Zhao, D., Kocerha, J., Chi, T., Moran, S., Engelhardt, H., Larkin, K., Neumann, A., Cheng, H., Li, C., Nelson, K., Banta, H., Zola, S.M., Villinger, F., Yang, J., Testa, C.M., Mao, H., Zhang, X., Bachevalier, J. : |
| A two years longitudinal study of a transgenic Huntington disease monkey. BMC Neurosci 15:36, 2014. Pubmed reference: 24581271. DOI: 10.1186/1471-2202-15-36. | |
| 2013 | Kocerha, J., Liu, Y., Willoughby, D., Chidamparam, K., Benito, J., Nelson, K., Xu, Y., Chi, T., Engelhardt, H., Moran, S., Yang, S.H., Li, S.H., Li, X.J., Larkin, K., Neumann, A., Banta, H., Yang, J.J., Chan, A.W. : |
| Longitudinal transcriptomic dysregulation in the peripheral blood of transgenic Huntington's disease monkeys. BMC Neurosci 14:88, 2013. Pubmed reference: 23957861. DOI: 10.1186/1471-2202-14-88. | |
| Laowtammathron, C., Chan, A.W. : | |
| Pluripotent hybrid stem cells from transgenic Huntington's disease monkey. Methods Mol Biol 1010:61-77, 2013. Pubmed reference: 23754219. DOI: 10.1007/978-1-62703-411-1_5. | |
| Putkhao, K., Kocerha, J., Cho, I.K., Yang, J., Parnpai, R., Chan, A.W. : | |
| Pathogenic cellular phenotypes are germline transmissible in a transgenic primate model of Huntington's disease. Stem Cells Dev 22:1198-205, 2013. Pubmed reference: 23190281. DOI: 10.1089/scd.2012.0469. | |
| 2012 | Li, X.J., Li, S. : |
| Influence of species differences on the neuropathology of transgenic Huntington's disease animal models. J Genet Genomics 39:239-45, 2012. Pubmed reference: 22749010. DOI: 10.1016/j.jgg.2012.05.002. | |
| 2008 | Yang, S.H., Cheng, P.H., Banta, H., Piotrowska-Nitsche, K., Yang, J.J., Cheng, E.C., Snyder, B., Larkin, K., Liu, J., Orkin, J., Fang, Z.H., Smith, Y., Bachevalier, J., Zola, S.M., Li, S.H., Li, X.J., Chan, A.W. : |
| Towards a transgenic model of Huntington's disease in a non-human primate. Nature 453:921-4, 2008. Pubmed reference: 18488016. DOI: 10.1038/nature06975. | |
| 1997 | Emerich, D.F., Winn, S.R., Hantraye, P.M., Peschanski, M., Chen, E.Y., Chu, Y., McDermott, P., Baetge, E.E., Kordower, J.H. : |
| Protective effect of encapsulated cells producing neurotrophic factor CNTF in a monkey model of Huntington's disease. Nature 386:395-9, 1997. Pubmed reference: 9121555. DOI: 10.1038/386395a0. | |
| 1993 | Hoogeveen, A.T., Willemsen, R., Meyer, N., de Rooij, K.E., Roos, R.A., van Ommen, G.J., Galjaard, H. : |
| Characterization and localization of the Huntington disease gene product. Hum Mol Genet 2:2069-73, 1993. Pubmed reference: 8111375. DOI: 10.1093/hmg/2.12.2069. |
Edit History
- Created by Frank Nicholas on 30 Sep 2019
- Changed by Frank Nicholas on 30 Sep 2019
- Changed by Imke Tammen on 08 Apr 2021
- Changed by Imke Tammen on 09 Jan 2022
- Changed by Imke Tammen on 10 Dec 2023
- Changed by Imke Tammen on 20 Aug 2024
- Changed by Imke Tammen on 30 Sep 2026