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| Nomenclature |
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Symbol:
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Psen1tm1Zhe
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Name:
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presenilin 1;
targeted mutation 1, Hui Zheng
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MGI ID: |
MGI:3623206 |
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Synonyms: |
PS1 deltaE10 |
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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:107251
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Parent Cell Line:
| AB2.1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Intragenic deletion |
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Mutation details: Exon 10, which encodes most of the hydrophilic loop, was removed from the locus via cre-mediated recombination. Western blot detected a truncated C-terminal fragment due to the deletion of the exon. (J:107251)
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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:107251
Deng Y et al.,
"Deletion of presenilin 1 hydrophilic loop sequence leads to impaired gamma-secretase activity and exacerbated amyloid pathology."
J Neurosci 2006 Apr 5;26(14):3845-54
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All: |
2 reference(s)
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Analysis Tools
