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Transgene Detail
Symbol: Tg(PSEN1dE9)S9Dbo
Name: transgene insertion S9, David R Borchelt
MGI ID: MGI:3618599
Synonyms: deltaE9, huPS1deltaE9, line S-9, PS1dE9 transgene, PS1 deltaE9, PS1-deltaE9, PS1deltaE9 (line S-9), PS1 transgene (line S-9)
Transgene: Tg(PSEN1dE9)S9Dbo  Location: unknown  
Strain of Origin:  (C57BL/6J x C3H/HeJ)F2
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
Tg(PSEN1dE9)S9Dbo expresses 1 gene
Mutation detailsThe coding sequence of the transgene is derived from the cDNA of the familial Alzheimer disease- (FAD-) associated deltaE9 variant of human presenilin 1, which has a splice acceptor mutation upstream of exon 9 that results in a protein lacking amino acids 290-319. The mutant cDNA replaces the coding region of the mouse prion protein (Prp) gene in a construct that contains ~6 kb of genomic DNA upstream of the primary PRP translation start site and includes the noncoding first exon and first intron and, following the inserted PSEN1 sequence, ~3 kb of 3' untranslated sequence; this construct has been shown to drive expression in both neurons and glial cells of the central nervous system (CNS). (J:34323, J:80782, J:104147)
View phenotypes for all genotypes (concatenated display).
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Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available

The deltaE9 PSEN1 protein variant fails to undergo endoproteolysis in cultured lymphoblasts from an affected human carrier and instead accumulates as the full-length, 40 kDa mutant protein (J:34323). Similarly, immunoblotting of of cortical and hippocampal extracts from transgenic mice under conditions that distinguish mouse and human full-length PSEN1 and their endoproteolytic derivatives demonstrates failure of the transgenic protein to undergo endoproteolysis. (J:104147)

The amount of full-length mutant human PSEN1 in brains of deltaE9 PSEN1 transgenic mice exceeds by ~60% the cumulative amount of the full-length human PSEN1 and its N-terminal derivative in brains of transgenic mice expressing wild-type human PSEN1. (J:104147)

Original:  J:78664 Jankowsky JL, et al., Co-expression of multiple transgenes in mouse CNS: a comparison of strategies. Biomol Eng. 2001 Jun;17(6):157-65
All:  56 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.07
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