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Phenotypes Associated with This Genotype
Genotype
MGI:3618601
Allelic
Composition
Tg(PSEN1dE9)S9Dbo/0
Genetic
Background
involves: C3H/HeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(PSEN1dE9)S9Dbo mutation (1 available)
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
DO ID OMIM ID(s) Ref(s)
Alzheimer's disease DOID:10652 J:104147
Alzheimer's disease 3 DOID:0110042 OMIM:607822
J:104147


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/26/2020
MGI 6.15
The Jackson Laboratory