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

Considered a defect: 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].


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 :ddae087, 2024. Pubmed reference: 38776957. DOI: 10.1093/hmg/ddae087.
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