Phenotypes Associated with This Genotype

Genotype
MGI:4356193

• Allelic Composition: Prnp^tm1Cwe/Prnp^tm1Cwe; Tg(Prnp*A116V*M128V)1309Jama/0
• Genetic Background: involves: 129S7/SvEvBrd

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:151934 )

• at 176 days

behavior/neurological

impaired righting response ( J:151934 )

ataxia ( J:151934 )

• 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

abnormal gait ( J:151934 )

• beginning at 5 months, mice display a widened stance and unsteady gait compared with wild-type mice

nervous system

amyloid beta deposits ( J:151934 )

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

brain vacuoles ( J:151934 )

• mice exhibit mild scattered vacuolization in the neocortex, hippocampus, thalamus, hypothalamus, caudate nucleus, pons, cerebellum molecular layer, and cerebellum granular layer

homeostasis/metabolism

amyloid beta deposits ( J:151934 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Gerstmann-Straussler-Scheinker syndrome		DOID:4249	OMIM:137440	J:151934