OMIA:000944 : Spongiform encephalopathy, susceptibility/resistance to

Categories: Nervous system phene

Possible human homologues (MIM numbers): 176640 (gene) , 245300 (trait)

Links to relevant human diseases in MONDO:

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.

Species in which this phene is found:
Mallard (Anas platyrhynchos)
chicken (Gallus gallus)
Ring-necked pheasant (Phasianus colchicus)
white-tufted-ear marmoset (Callithrix jacchus)
macaques (Macaca)
crab-eating macaque (Macaca fascicularis)
Rhesus monkey (Macaca mulatta)
dog (Canis lupus familiaris)
domestic ferret (Mustela putorius furo)
domestic cat (Felis catus)
puma (Puma concolor)
horse (Equus caballus)
pig (Sus scrofa)
Arabian camel (Camelus dromedarius)
deer (Cervidae)
Eurasian elk (Alces alces)
Western roe deer (Capreolus capreolus)
red deer (Cervus elaphus)
Eastern wapiti (Cervus canadensis canadensis)
sika deer (Cervus nippon)
Manchurian Wapiti (Cervus elaphus xanthopygus)
reindeer (Rangifer tarandus)
black-tailed deer (Odocoileus hemionus columbianus)
white-tailed deer (Odocoileus virginianus)
American bison (Bison bison)
taurine cattle (Bos taurus)
goat (Capra hircus)
mouflon (Ovis aries musimon)
sheep (Ovis aries)
eland (Tragelaphus oryx)
greater kudu (Tragelaphus strepsiceros)
gemsbok (Oryx gazella)
rabbit (Oryctolagus cuniculus)
golden hamster (Mesocricetus auratus)
domestic guinea pig (Cavia porcellus)
domestic yak (Bos grunniens)
chital (Axis axis)
fallow deer (Dama dama)
cheetah (Acinonyx jubatus)
raccoon dog (Nyctereutes procyonoides)
bighorn sheep (Ovis canadensis)
blue antelope (Hippotragus leucophaeus)
Arabian oryx (Oryx leucoryx)
scimitar-horned oryx (Oryx dammah)
nyala (Tragelaphus angasii)
Spanish ibex (Capra pyrenaica)
water buffalo (Bubalus bubalis)
Japanese quail (Coturnix japonica)
Pyrenean chamois (Rupicapra pyrenaica pyrenaica)
Iberian red deer (Cervus elaphus hispanicus)
Bank vole (Myodes glareolus)
American mink (Neovison vison)

Edit History

  • Created by Frank Nicholas on 03 May 2005
  • Changed by Imke Tammen2 on 21 Apr 2021
  • Changed by Imke Tammen2 on 25 Jun 2021
  • Changed by Imke Tammen2 on 22 Aug 2021
  • Changed by Imke Tammen2 on 17 Sep 2021
  • Changed by Imke Tammen2 on 27 Sep 2021
  • Changed by Imke Tammen2 on 12 Sep 2022
  • Changed by Imke Tammen2 on 13 Sep 2022
  • Changed by Imke Tammen2 on 10 Nov 2022
  • Changed by Imke Tammen2 on 13 Jan 2023
  • Changed by Imke Tammen2 on 27 Feb 2023
  • Changed by Imke Tammen2 on 11 Sep 2023
  • Changed by Imke Tammen2 on 20 Sep 2023