OMIA:000485-9940 : Huntington disease in Ovis aries (sheep) |
In other species: crab-eating macaque , Rhesus monkey , pig
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:
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2010
Species-specific description: This phene includes references to studies involving genetically modified organisms (GMO).
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 | Ovis aries | 6 | NC_056059.1 (116449465..116327379) | HTT | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000485-9940: 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.
| 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. | |
| Jiang, A., You, L., Handley, R.R., Hawkins, V., Reid, S.J., Jacobsen, J.C., Patassini, S., Rudiger, S.R., Mclaughlan, C.J., Kelly, J.M., Verma, P.J., Bawden, C.S., Gusella, J.F., MacDonald, M.E., Waldvogel, H.J., Faull, R.L.M., Lehnert, K., Snell, R.G. : | |
| Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington's disease model. Hum Mol Genet 33:1524-1539, 2024. Pubmed reference: 38776957. DOI: 10.1093/hmg/ddae087. | |
| Williams, G.K., Akkermans, J., Lawson, M., Syta, P., Staelens, S., Adhikari, M.H., Morton, A.J., Nitzsche, B., Boltze, J., Christou, C., Bertoglio, D., Ahamed, M. : | |
| Imaging glucose metabolism and dopaminergic dysfunction in sheep (Ovis aries) brain using positron emission tomography imaging reveals abnormalities in OVT73 Huntington's disease sheep. ACS Chem Neurosci 15:4082-4091, 2024. Pubmed reference: 39420554. DOI: 10.1021/acschemneuro.4c00561. | |
| 2023 | McBride, S.D., Ober, J., Dylak, J., Schneider, W., Morton, A.J. : |
| Oculomotor abnormalities in a sheep (Ovis aries) model of Huntington's disease: Towards a biomarker for assessing therapeutic efficacy. J Huntingtons Dis 12:189-200, 2023. Pubmed reference: 37718849. DOI: 10.3233/JHD-230584. | |
| Morton, A.J. : | |
| Sleep and circadian rhythm dysfunction in animal models of Huntington's disease. J Huntingtons Dis 12:133-148, 2023. Pubmed reference: 37334613. DOI: 10.3233/JHD-230574. | |
| Sapp, E., Boudi, A., Reid, S.J., Trombetta, B.A., Kivisäkk, P., Taghian, T., Arnold, S.E., Howland, D., Gray-Edwards, H., Kegel-Gleason, K.B., DiFiglia, M. : | |
| Levels of synaptic proteins in brain and neurofilament light chain in cerebrospinal fluid and plasma of OVT73 Huntington's disease sheep support a prodromal disease state. J Huntingtons Dis 12:201-213, 2023. Pubmed reference: 37661892. DOI: 10.3233/JHD-230590. | |
| 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. | |
| 2022 | Banstola, A., Reynolds, J.N.J. : |
| The sheep as a large animal model for the investigation and treatment of human disorders. Biology (Basel) 11:1251, 2022. Pubmed reference: 36138730. DOI: 10.3390/biology11091251. | |
| Murray, S.J., Mitchell, N.L. : | |
| The translational benefits of sheep as large animal models of human neurological disorders. Front Vet Sci 9:831838, 2022. Pubmed reference: 35242840. DOI: 10.3389/fvets.2022.831838. | |
| Taghian, T., Gallagher, J., Batcho, E., Pullan, C., Kuchel, T., Denney, T., Perumal, R., Moore, S., Muirhead, R., Herde, P., Johns, D., Christou, C., Taylor, A., Passler, T., Pulaparthi, S., Hall, E., Chandra, S., O'Neill, C.A., Gray-Edwards, H. : | |
| Brain alterations in aged OVT73 sheep model of Huntington's disease: An MRI based approach. J Huntingtons Dis 11:391-406, 2022. Pubmed reference: 36189602. DOI: 10.3233/JHD-220526. | |
| 2021 | Mears, E.R., Handley, R.R., Grant, M.J., Reid, S.J., Day, B.T., Rudiger, S.R., McLaughlan, C.J., Verma, P.J., Bawden, S.C., Patassini, S., Unwin, R.D., Cooper, G.J.S., Gusella, J.F., MacDonald, M.E., Brauning, R., Maclean, P., Pearson, J.F., Waldvogel, H.J., Faull, R.L.M., Snell, R.G. : |
| A multi-omic Huntington's disease transgenic sheep-model database for investigating disease pathogenesis. J Huntingtons Dis 10:423-434, 2021. Pubmed reference: 34420978. DOI: 10.3233/JHD-210482. | |
| 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. | |
| 2018 | Pfister, E.L., DiNardo, N., Mondo, E., Borel, F., Conroy, F., Fraser, C., Gernoux, G., Han, X., Hu, D., Johnson, E., Kennington, L., Liu, P., Reid, S.J., Sapp, E., Vodicka, P., Kuchel, T., Morton, A.J., Howland, D., Moser, R., Sena-Esteves, M., Gao, G., Mueller, C., DiFiglia, M., Aronin, N. : |
| Artificial miRNAs reduce human mutant huntingtin throughout the striatum in a transgenic sheep model of Huntington's disease. Hum Gene Ther 29:663-673, 2018. Pubmed reference: 29207890. DOI: 10.1089/hum.2017.199. | |
| 2014 | Morton, A.J., Rudiger, S.R., Wood, N.I., Sawiak, S.J., Brown, G.C., Mclaughlan, C.J., Kuchel, T.R., Snell, R.G., Faull, R.L., Bawden, C.S. : |
| Early and progressive circadian abnormalities in Huntington's disease sheep are unmasked by social environment. Hum Mol Genet 23:3375-83, 2014. Pubmed reference: 24488771. DOI: 10.1093/hmg/ddu047. | |
| 2013 | Huntington's Disease Sheep Collaborative Research Group, Reid, S.J., Patassini, S., Handley, R.R., Rudiger, S.R., McLaughlan, C.J., Osmand, A., Jacobsen, J.C., Morton, A.J., Weiss, A., Waldvogel, H.J., MacDonald, M.E., Gusella, J.F., Bawden, C.S., Faull, R.L., Snell, R.G. : |
| Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates. J Huntingtons Dis 2:279-95, 2013. Pubmed reference: 25062676. DOI: 10.3233/JHD-130067. | |
| 2010 | Jacobsen, J.C., Bawden, C.S., Rudiger, S.R., McLaughlan, C.J., Reid, S.J., Waldvogel, H.J., MacDonald, M.E., Gusella, J.F., Walker, S.K., Kelly, J.M., Webb, G.C., Faull, R.L., Rees, M.I., Snell, R.G. : |
| An ovine transgenic Huntington's disease model. Hum Mol Genet 19:1873-82, 2010. Pubmed reference: 20154343. DOI: 10.1093/hmg/ddq063. |
Edit History
- Created by Imke Tammen2 on 22 Aug 2021
- Changed by Imke Tammen2 on 22 Aug 2021
- Changed by Imke Tammen2 on 26 Aug 2021
- Changed by Imke Tammen2 on 09 Jan 2022
- Changed by Imke Tammen2 on 29 Nov 2022
- Changed by Imke Tammen2 on 10 Dec 2023
- Changed by Imke Tammen2 on 08 Apr 2024