Phenotypes Associated with This Genotype

Genotype
MGI:5003459

• Allelic Composition: Tg(Hmgcr-PSEN1*M146L)#Lpr/0; Tg(Thy1-APP^SL)28Lpr/0
• Genetic Background: involves: C57BL/6 * CBA

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

nervous system

amyloid beta deposits ( J:86694 , J:99507 , J:128243 )

• plaques are seen at 6 months of age (J:86694)

• detected in the hippocampus at 4.5 and 17 months of age (J:99507)

• abundant amyloid beta neuropil deposits in hippocampal and cortical areas in aged mice (J:128243)

decreased brain size ( J:108853 )

• non-corrected intracranial and brain volumes are reduced compared to Tg(Hmgcr-PSEN1*M146L)#Lpr single transgenics at 10 weeks of age

• corrected brain volumes are strongly decreased with age

decreased brain weight ( J:108853 )

• in aged mice compared to Tg(Hmgcr-PSEN1*M146L)#Lpr single transgenics

increased brain size ( J:108853 )

• significant increase in brain length with age compared to Tg(Hmgcr-PSEN1*M146L)#Lpr single transgenics

abnormal brain internal capsule morphology ( J:108853 )

• surface area of the internal capsule does not increase with age unlike in Tg(Hmgcr-PSEN1*M146L)#Lpr single transgenics

abnormal telencephalon morphology ( J:108853 )

decreased corpus callosum size ( J:108853 )

• decrease in thickness of the caudal corpus callosum with age

decreased hippocampal fornix size ( J:108853 )

• decrease in fornix diameter in aged mice

abnormal hippocampus layer morphology ( J:99507 )

• age-related decline in mean synaptic bouton densities within the stratum lucidum of area CA3

abnormal hippocampus molecular cell layer ( J:99507 )

• age-related decline in mean synaptic bouton densities and in mean volume

abnormal hippocampus stratum radiatum morphology ( J:99507 )

• age-related decline in mean synaptic bouton densities in area CA1?2

abnormal neurite morphology ( J:86694 )

• clusters of swollen and abnormally distorted neuritic profiles are seen

abnormal synaptic bouton morphology ( J:99507 )

• age-related decline in mean synaptic bouton densities within the hippocampal molecular cell layer, stratum lucidum of area CA3, and stratum radiatum of area CA1?2

abnormal nervous system physiology ( J:108853 )

• global brain atrophy in aged mice

homeostasis/metabolism

amyloid beta deposits ( J:86694 , J:99507 , J:128243 )

• plaques are seen at 6 months of age (J:86694)

• detected in the hippocampus at 4.5 and 17 months of age (J:99507)

• abundant amyloid beta neuropil deposits in hippocampal and cortical areas in aged mice (J:128243)

decreased circulating cholesterol level ( J:128243 )

• significant decrease in plasma cholesterol between 3 and 13 months of age that is not seen in wild-type controls

• plasma cholesterol levels are reduced compared to wild-type controls at 13 months of age but not at 3 months of age

growth/size/body

abnormal body size ( J:108853 )

• brain weight to body weight ratio is increased compared to Tg(Hmgcr-PSEN1*M146L)#Lpr single transgenics at 24 months of age

decreased body weight ( J:108853 )

• in aged mice compared to Tg(Hmgcr-PSEN1*M146L)#Lpr single transgenics

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alzheimer's disease		DOID:10652		J:86694 , J:99507