Phenotypes Associated with This Genotype

Genotype
MGI:5491048

• 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