Phenotypes Associated with This Genotype

Genotype
MGI:4367786

• Allelic Composition: Tg(PRNP-APPSweInd)19959Dwst/0
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

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

growth/size/body

decreased body weight ( J:152550 )

nervous system

amyloid beta deposits ( J:69967 , J:177369 )

• at 3 months, mice exhibit cerebral plaques unlike wild-type mice (J:69967)

• mutants exhibit plaque formation, with marked amyloid beta plaques at 5 months of age, with some plaques within the CA1 pyramidal cell body layer of the hippocampus (J:177369)

homeostasis/metabolism

amyloidosis ( J:177369 )

• mutants exhibit intraneuronal amyloid beta accumulation at early ages before the formation of plaques

• the intraneuronal amyloid beta forms fibrillar species within the CA1 region of the hippocampus

• the intraneuronal fibrillar species are found within cell bodies of pyramidal and GABAergic neurons, processes, and synaptic structures, especially postsynaptic compartments

• intraneuronal fibrillar amyloid beta species are seen in individual spines that are enlarged

• accumulation of fibrillar amyloid beta species is associated with reduction in cytoskeletal proteins

• fibrillar amyloid beta species are seen piercing the cell membrane

amyloid beta deposits ( J:69967 , J:177369 )

• at 3 months, mice exhibit cerebral plaques unlike wild-type mice (J:69967)

• mutants exhibit plaque formation, with marked amyloid beta plaques at 5 months of age, with some plaques within the CA1 pyramidal cell body layer of the hippocampus (J:177369)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alzheimer's disease		DOID:10652		J:177369