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| Nomenclature |
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Symbol:
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Tg(PSEN1H163R)G9Btla
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Name:
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transgene insertion G9, Bruce Lamb
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MGI ID: |
MGI:3693364 |
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Synonyms: |
(H163R) PS-1 YAC, H163R mutant PS-1 YAC, H163R mutant PS-1 YAC transgenic mouse (line G9), PS-1 YAC transgenic line G9 |
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Transgene:
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Tg(PSEN1H163R)G9Btla
Location:
unknown
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Transgene
origin |
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Germline Transmission:
| Earliest citation of germline transmission:
J:58050
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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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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A 1000 kb YAC transgene (788H12) containing the entire human presenilin-1 gene was altered to include the Familial Alzheimer's Disease- (FAD-) associated histidine-to-arginine substitution at amino acid position 163 (H163R). The transgene also includes approximately 550 kb of upstream and 350 kb of downstream flanking DNA. Semi-quantitative RT-PCR of multiple tissues shows expression of H163R mutant human mRNA at 50-70% of the level of wild-type mouse transcripts. Transgenic tissues express a wide spectrum of human presenilin-1 mRNA and protein species; alternatively spliced human mRNAs encoding presenilin 1, with or without the tetrapeptide VRSQ, are detected, and western blot analysis reveals accumulation of an 18-kDa C-terminal peptide. (J:58050) |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
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 |
 |
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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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 transgene construct was injected into embryonic stem (ES) cells.
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| References |
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Original: |
J:58050
Lamb BA et al.,
"Amyloid production and deposition in mutant amyloid precursor protein and presenilin-1 yeast artificial chromosome transgenic mice."
Nat Neurosci 1999 Aug;2(8):695-7
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All: |
1 reference(s)
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