OMIA:000944-9796 : Spongiform encephalopathy, susceptibility/resistance to in Equus caballus (horse)

In other species: Mallard , chicken , Ring-necked pheasant , white-tufted-ear marmoset , macaques , crab-eating macaque , Rhesus monkey , dog , domestic ferret , domestic cat , puma , pig , Arabian camel , deer , Eurasian elk , Western roe deer , red deer , Eastern wapiti , sika deer , Manchurian Wapiti , reindeer , black-tailed deer , white-tailed deer , American bison , taurine cattle , goat , mouflon , sheep , eland , greater kudu , gemsbok , rabbit , golden hamster , domestic guinea pig , domestic yak , chital , fallow deer , cheetah , raccoon dog , bighorn sheep , blue antelope , Arabian oryx , scimitar-horned oryx , nyala , Spanish ibex , water buffalo , Japanese quail , Pyrenean chamois , Iberian red deer , Bank vole , American mink

Categories: Nervous system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 176640 (gene) , 245300 (trait)

Links to MONDO diseases:

Mendelian trait/disorder: unknown

Considered a defect: unknown

Cross-species summary: Spongiform encephalopathies are a class of fatal neurological diseases. Clinical signs are characteristic of a progressive degeneration of the central nervous system; they include pruritis, abnormalities of gait and recumbency. Death is inevitable. On post-mortem, brain histopathology shows a characteristic spongy appearance. The infectious agent is a modified form of a protein encoded by a gene in the host. The name given to this infectious particle is prion. The host gene is called the prion protein (PrP) gene, which is a normal part of the genome of mammals and chickens. Its polypeptide product, called cellular PrP(superscript C), is a naturally-occurring protein attached to the outer surface of neurones and some other cells. PrP(superscript C) appears to play a role in maintaining the Purkinje cells of the cerebellum, which are essential for balance and muscular function. The infectious agent, called scrapie PrP(superscript Sc), is a modifed form of PrP(superscript C), where the modifications involve glycosylation and the creation of intra-strand di-sulphide bonds. It is important to realise that these modifications involve no change in amino acid sequence. When PrP(superscript Sc) molecules enter a previously uninfected host, they convert the naturally occurring PrP(superscript C) molecules, produced by the host gene, into infectious PrP(superscript Sc) particles, which ultimately cause clinical signs in that animal, and which can spread to other animals, both horizontally (by infection) and vertically (by maternal transmission). In ruminants the disease has been called bovine spongiform encephalopathy (BSE) in cattle, scrapie in sheep and goats and chronic wasting disease (CWD) in cervids.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:000944-9796: 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 Adeola, A.C., Bello, S.F., Abdussamad, A.M., Adedokun, R.A.M., Olaogun, S.C., Abdullahi, N., Mark, A.I., Onoja, A.B., Sanke, O.J., Mangbon, G.F., Ibrahim, J., Dawuda, P.M., Salako, A.E., Kdidi, S., Yahyaoui, M.H. :
Single nucleotide polymorphisms (SNPs) in the open reading frame (ORF) of prion protein gene (PRNP) in Nigerian livestock species. BMC Genomics 25:177, 2024. Pubmed reference: 38355406. DOI: 10.1186/s12864-024-10070-2.
2023 Sola, D., Artigas, R., Mediano, D.R., Zaragoza, P., Badiola, J.J., Martín-Burriel, I., Acín, C. :
Novel polymorphisms in the prion protein gene (PRNP) and stability of the resultant prion protein in different horse breeds. Vet Res 54:94, 2023. Pubmed reference: 37848924. DOI: 10.1186/s13567-023-01211-8.
2021 Won, S.Y., Kim, Y.C., Do, K., Jeong, B.H. :
The first report of genetic polymorphisms of the equine SPRN gene in outbred horses, Jeju and Halla horses. Animals (Basel) 11, 2021. Pubmed reference: 34573540. DOI: 10.3390/ani11092574.
2020 Kim, Y.C., Won, S.Y., Do, K., Jeong, B.H. :
Identification of the novel polymorphisms and potential genetic features of the prion protein gene (PRNP) in horses, a prion disease-resistant animal. Sci Rep 10:8926, 2020. Pubmed reference: 32488112. DOI: 10.1038/s41598-020-65731-5.
Myers, R., Cembran, A., Fernandez-Funez, P. :
Insight from animals resistant to prion diseases: Deciphering the genotype - morphotype - phenotype code for the prion protein. Front Cell Neurosci 14:254, 2020. Pubmed reference: 33013324. DOI: 10.3389/fncel.2020.00254.
Won, S.Y., Kim, Y.C., Do, K., Jeong, B.H. :
Absence of strong genetic linkage disequilibrium between single nucleotide polymorphisms (SNPs) in the prion protein gene (PRNP) and the prion-like protein gene (PRND) in the horse, a prion-resistant species. Genes (Basel) 11, 2020. Pubmed reference: 32392732. DOI: 10.3390/genes11050518.
2019 Won, S.Y., Kim, Y.C., Kim, S.K., Jeong, B.H. :
The first report of genetic and structural diversities in the SPRN gene in the horse, an animal resistant to prion disease. Genes (Basel) 11:39, 2019. Pubmed reference: 31905681. DOI: 10.3390/genes11010039.
2018 Kim, Y.C., Jeong, B.H. :
The first report of polymorphisms and genetic characteristics of the prion protein gene (PRNP) in horses. Prion , 2018. Pubmed reference: 30165784. DOI: 10.1080/19336896.2018.1513316.
Sanchez-Garcia, J., Fernandez-Funez, P. :
D159 and S167 are protective residues in the prion protein from dog and horse, two prion-resistant animals. Neurobiol Dis 119:1-12, 2018. Pubmed reference: 30010001. DOI: 10.1016/j.nbd.2018.07.011.

Edit History

  • Created by Frank Nicholas on 20 Sep 2019
  • Changed by Frank Nicholas on 15 May 2020
  • Changed by Imke Tammen2 on 20 Apr 2021
  • Changed by Imke Tammen2 on 22 Aug 2021
  • Changed by Imke Tammen2 on 25 Aug 2021