Phenotypes Associated with This Genotype

Genotype
MGI:5559229

• Allelic Composition: Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas/0; Tg(Thy1-MAPT*)30Schd/0
• Genetic Background: involves: C57BL/6 * C57BL/6J * CBA * SJL

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

mortality/aging

premature death ( J:201809 )

• decreased survival at 10 months of age

nervous system

amyloid beta deposits ( J:201809 )

• plaque load is reduced compared to mice hemizygous for Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas alone

decreased brain weight ( J:201809 )

• at 9 months of age compared to wild-type mice and mice hemizygous for Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas alone

decreased hippocampus pyramidal cell number ( J:201809 )

• at 9 months of age

neurofibrillary tangles ( J:201809 )

• detected in the hippocampus, cortex, and spinal cord

• tangles in hippocampal neurons are composed of straight filaments with a wavy appearance and of occasional paired helical filaments

• density of tangles in the spinal cord increases strongly from 3 to 9 months of age

• density of tangles in the hippocampus and cortex is increased compared to mice hemizygous for Tg(Thy1-MAPT*)30Schd alone

• age of onset of tangles is earlier compared to mice hemizygous for Tg(Thy1-MAPT*)30Schd alone

abnormal neurite morphology ( J:201809 )

• dilated dystrophic neurites at 9 months of age

behavior/neurological

impaired coordination ( J:201809 )

• at 6 and 8 months of age compared to wild-type mice and mice hemizygous for Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas alone

• impairment is more severe than in mice hemizygous for Tg(Thy1-MAPT*)30Schd alone

growth/size/body

decreased body weight ( J:201809 )

• significant and progressive reduction in body weight starting at 6 months of age

homeostasis/metabolism

amyloid beta deposits ( J:201809 )

• plaque load is reduced compared to mice hemizygous for Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas alone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alzheimer's disease		DOID:10652		J:201809