Phenotypes Associated with This Genotype

Genotype
MGI:5487546

• Allelic Composition: Tg(Prnp*P101L)174Sbp/0
• Genetic Background: involves: C57BL/6 * SJL

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

mortality/aging

premature death ( J:127373 )

• once mice develop neurologic dysfunction, they deteriorate over 3-36 days until death

behavior/neurological

lethargy ( J:127373 )

• mice become lethargic between 7 and 39 weeks of age

ataxia ( J:127373 )

• ataxia and symptoms of rigidity develop between 7 and 39 weeks of age

nervous system

abnormal nervous system morphology ( J:127373 )

• mean age for when mutants develop neurologic dysfunction is 166 +/- 6 days; once affected, they deteriorate over 3-36 days until death

• however, amyloid plaques are not seen in the brain and brain homogenates from mutants are not infectious when injected into other mice or hamsters

gliosis ( J:127373 )

• prominent Bergmann radial gliosis is seen in much of the molecular layer of the cerebellar cortex

astrocytosis ( J:127373 )

• mild to moderate reactive astrocytic gliosis in a patchy distribution in both gray and white matter

spongiform encephalopathy ( J:127373 )

• numerous vacuoles (spongiform degeneration) are present in both the gray and white matter of the cerebral hemispheres and brainstem

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Gerstmann-Straussler-Scheinker syndrome		DOID:4249	OMIM:137440	J:127373