Phenotypes Associated with This Genotype

Genotype
MGI:5491033

• Allelic Composition: Tg(Prnp*P101L)2866Sbp/0
• Genetic Background: involves: FVB/N

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

mortality/aging

premature death ( J:136434 )

• mice die on average about 17 days following development of clinical signs of neurological disease

nervous system

abnormal brain morphology ( J:136434 )

• occasional prion protein plaques are seen in brains of a few ill mutants

astrocytosis ( J:136434 )

• reactive astrocytic gliosis

abnormal sciatic nerve morphology ( J:136434 )

• sciatic nerve shows regional loss of axons and active Wallerian degeneration

neurodegeneration ( J:136434 )

axon degeneration ( J:136434 )

• sciatic nerve shows regional loss of axons

spongiform encephalopathy ( J:136434 )

abnormal nervous system physiology ( J:136434 )

• mean age of neurologic disease onset is 220 +/- 10 days

• mean duration of illness (time from appearance of clinical signs to death) is 17 +/- 3 days

abnormal Wallerian degeneration ( J:136434 )

• sciatic nerve shows active Wallerian degeneration

muscle

abnormal muscle fiber morphology ( J:136434 )

• subsarcolemmal accumulation of mitochondria and abnormalities in distribution of the sarcoplasmic reticulum

abnormal skeletal muscle morphology ( J:136434 )

• skeletal muscles of aged mutants exhibit neuropathic and myopathic changes around 200 days of age

skeletal muscle fiber degeneration ( J:136434 )

• occasionally, degenerating skeletal muscle fibers are seen with rare fibers undergoing phagocytoisis

abnormal skeletal muscle fiber type ratio ( J:136434 )

• skeletal muscle from clinically ill mutants shows type I fiber predominance and grouping indicative of neurogenic rearrangement of muscle fiber typesskeletal muscle from clinically ill mutants shows type I fiber predominance and grouping indicative of neurogenic rearrangement of muscle fiber types

myopathy ( J:136434 )

homeostasis/metabolism

abnormal Wallerian degeneration ( J:136434 )

• sciatic nerve shows active Wallerian degeneration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Gerstmann-Straussler-Scheinker syndrome		DOID:4249	OMIM:137440	J:136434