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| Nomenclature |
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Symbol:
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Tg(PSEN1dE9)S9Dbo
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Name:
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transgene insertion S9, David R Borchelt
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MGI ID: |
MGI:3618599 |
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Synonyms: |
deltaE9, huPS1deltaE9, line S-9, PS1 deltaE9, PS1 transgene (line S-9), PS1-deltaE9, PS1dE9 transgene, PS1deltaE9 (line S-9) |
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Transgene:
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Tg(PSEN1dE9)S9Dbo
Location:
unknown
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Transgene
origin |
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Strain of Origin:
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(C57BL/6J x C3H/HeJ)F2
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Transgene
description |
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Transgene
Type: |
Transgenic (random, expressed) |
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Mutation: |
Insertion |
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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). (J:34323, J:80782, J:104147) |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
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expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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| Genotype | Allelic Composition | Genetic Background |
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  tg1
Disease Model |
Tg(PSEN1dE9)S9Dbo/0 |
involves: C3H/HeJ * C57BL/6J |
nervous system 1Models involving transgenes or other mutation types may also appear in other sections of the table.
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| Genotype | Allelic Composition | Genetic Background |
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tg2
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Bace1tm1Pcw/Bace1tm1Pcw
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0 |
involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J |
behavior/neurological other phenotype |
| Genotype | Allelic Composition | Genetic Background |
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tg3
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Bace1tm1Pcw/Bace1+
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0 |
involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J |
behavior/neurological nervous system other phenotype |
| Genotype | Allelic Composition | Genetic Background |
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tg4
Disease Model |
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0 |
involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J |
behavior/neurological nervous system other phenotype 1Models involving transgenes or other mutation types may also appear in other sections of the table.
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| Genotype | Allelic Composition | Genetic Background |
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tg5
Disease Model |
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0 |
involves: C3H/HeJ * C57BL/6J |
nervous system other phenotype 1Models involving transgenes or other mutation types may also appear in other sections of the table.
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| Genotype | Allelic Composition | Genetic Background |
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tg6
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Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0 |
Not Specified |
nervous system vision/eye immune system other phenotype hematopoietic system |
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Disease
models
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1Models involving transgenes or other mutation types may also appear in other sections of the table.
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Notes |
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)
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| References |
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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
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All: |
28 reference(s)
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