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| Nomenclature |
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Symbol:
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Psen1tm1.1Tcs
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Name:
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presenilin 1;
targeted mutation 1.1, Takaomi Saido
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MGI ID: |
MGI:5292236 |
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Synonyms: |
PS1-R278I |
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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:175901
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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-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: Exon 8 was replaced with a neo cassette and a modified exon 8 in which a G to T mutation results in the amino acid substitution of isoleucine for arginine at position 278 (R278I). Cre-mediated recombination removed the neo cassette. (J:175901)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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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:175901
Saito T et al.,
"Potent amyloidogenicity and pathogenicity of Abeta43."
Nat Neurosci 2011 Aug;14(8):1023-32
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All: |
1 reference(s)
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Analysis Tools
