| Allele Name | transgene insertion S9, David R Borchelt |
| Allele Type | Transgenic (Inserted expressed sequence, Humanized sequence) |
| Allele Synonym(s) | deltaE9; huPS1deltaE9; line S-9; PS1 deltaE9; PS1 transgene (line S-9); PS1dE9 transgene; PS1-deltaE9; PS1deltaE9 (line S-9) |
| Gene Symbol and Name | Tg(PSEN1dE9)S9Dbo, transgene insertion S9, David R Borchelt |
| Gene Synonym(s) | |
| Promoter | Prnp, prion protein, mouse, laboratory |
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| Expressed Gene | PSEN1, presenilin 1, human |
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| Strain of Origin | (C57BL/6J x C3H/HeJ)F2 |
| Chromosome | UN |
| General Note | 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) |
| Molecular Note | The 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). |
| Mutations Made By | Dr. David Borchelt, University of Florida |
