Phenotypes associated with this allele

• Allele Symbol: Tg(Prnp*P101L)2866Sbp
• Allele Name: transgene insertion 2866, Stanley B Prusiner
• Allele ID: MGI:5491025
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Prnp^tm1Cwe/Prnp^tm1Cwe Tg(Prnp*P101L)2866Sbp/0	involves: 129S7/SvEvBrd * FVB/N	MGI:5491048
cx2	Prnp^tm1Cwe/Prnp^tm1Cwe Tg(Prnp*P101L)2866Sbp/Tg(Prnp*P101L)2866Sbp	involves: 129S7/SvEvBrd * FVB/N	MGI:5491050
tg3	Tg(Prnp*P101L)2866Sbp/0	involves: FVB/N	MGI:5491033

Genotype
MGI:5491048

cx1

• Allelic Composition: Prnp^tm1Cwe/Prnp^tm1Cwe; Tg(Prnp*P101L)2866Sbp/0
• Genetic Background: involves: 129S7/SvEvBrd * FVB/N

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

mortality/aging

premature death ( J:136434 )

• mutants die within about 3 days following clinical signs of neurological disease

nervous system

abnormal brain morphology ( J:136434 )

• brains of ill mutants contain abundant prion protein amyloid plaques; prion protein deposits are not resistant to proteinase K digestion

astrocytosis ( J:136434 )

spongiform encephalopathy ( J:136434 )

abnormal nervous system physiology ( J:136434 )

• mean age for development of neurologic disease is 146 +/- 2 days

• mean duration of illness (time from appearance of clinical signs to death) is reduced from 17 +/- 3 days in single Tg(Prnp*P101L)2866Sbp mice to 3 +/-1 days in double mutants

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

Genotype
MGI:5491050

cx2

• Allelic Composition: Prnp^tm1Cwe/Prnp^tm1Cwe; Tg(Prnp*P101L)2866Sbp/Tg(Prnp*P101L)2866Sbp
• Genetic Background: involves: 129S7/SvEvBrd * FVB/N

nervous system

spongiform encephalopathy ( J:136434 )

abnormal nervous system physiology ( J:136434 )

• mean age for development of neurologic disease is 85 +/- 2 days

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

Genotype
MGI:5491033

tg3

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

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