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| Nomenclature |
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Symbol:
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Psen1tm1Dgf
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Name:
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presenilin 1;
targeted mutation 1, Dorothy G Flood
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MGI ID: |
MGI:3608968 |
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Synonyms: |
PS-1P264L, Psen1tm1Rsim |
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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:102425
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: A targeting construct was designed to insert a P264L mutation into exon 8. Northern blot demonstrated mRNA levels were comparable in mutants and wild-type mice. Western blot indicated that dispite normal mRNA expression, protein of N- and C-terminal fragments was reduced by about 50%. (J:102425)
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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:102425
Flood DG et al.,
"FAD mutant PS-1 gene-targeted mice: increased A beta 42 and A beta deposition without APP overproduction."
Neurobiol Aging 2002 May-Jun;23(3):335-48
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All: |
21 reference(s)
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Analysis Tools
