Mouse Genome Informatics
cx1
    Prnptm1Cwe/Prnptm1Cwe
Tg(Prnp*A116V*M128V)1309Jama/0

involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• at 176 days

behavior/neurological
• beginning at 5 months, mice display a widened stance and unsteady gait compared with wild-type mice
• ataxia progresses with time and becomes severe with excessive falling, difficulty righting, and death
• beginning at 5 months, mice display a widened stance and unsteady gait compared with wild-type mice

nervous system
• mice develop amyloid plaques positive for full-length Prnp protein in the neocortex, hippocampus, caudate nucleus, and cerebellar cortex
• mice exhibit mild scattered vacuolization in the neocortex, hippocampus, thalamus, hypothalamus, caudate nucleus, pons, cerebellum molecular layer, and cerebellum granular layer

homeostasis/metabolism
• mice develop amyloid plaques positive for full-length Prnp protein in the neocortex, hippocampus, caudate nucleus, and cerebellar cortex

Mouse Models of Human Disease
OMIM IDRef(s)
Gerstmann-Straussler Disease; GSD 137440 J:151934