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| Nomenclature |
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Symbol:
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Psen1tm1Psgh
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Name:
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presenilin 1;
targeted mutation 1, Peter St George-Hyslop
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MGI ID: |
MGI:2155771 |
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Synonyms: |
PS1- |
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Gene:
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Psen1
Location:
Chr12:83688563-83735199 bp, + strand
Genetic Position: Chr12,
38.84 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:66016
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: A loxP flanked neomycin resistance cassette was introduced approximately 0.2 kb downstream of exon 5 of the gene. The presence of cryptic splice sites within the neomycin cassette resulted in the generation of low quantities of unstable transcripts, which lacked an open reading frame after exon 5. The authors state "these transcripts result in no detectable protein in ES cells or in the brains of animals homozygous for this construct". (J:66016)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Psen1 Mutation:
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20 strains or lines available |
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| References |
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Original: |
J:66016
Chen F et al.,
"Carboxyl-terminal fragments of alzheimer beta -amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells"
J Biol Chem 2000 Nov 24;275(47):36794-802
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All: |
2 reference(s)
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Analysis Tools
