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Phenotypes Associated with This Genotype
involves: C3H/HeJ * C57BL/6J
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phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• immunoblotting of of cortical and hippocampal extracts from transgenic mice under conditions that distinguish mouse and human full-length PSEN1 and its endoproteolytic derivatives demonstrates failure of the transgenic protein to undergo endoproteolysis and, instead, accumulation of the full-length mutant human protein in the brain
• endoproteolytic cleavage products of endogenous mouse PSEN1 are 70-90% less abundant in brains of transgenic than of wild-type mice; however, failure of its cleavage does not result in accumulation of the full-length mouse protein

Mouse Models of Human Disease
OMIM ID Ref(s)
Alzheimer Disease 3 607822 J:104147
Alzheimer Disease; AD 104300 J:104147

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory