Psen1tm1.1Ruvi
Targeted Allele Detail
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Symbol: |
Psen1tm1.1Ruvi |
Name: |
presenilin 1; targeted mutation 1.1, Ruben Vidal |
MGI ID: |
MGI:5439663 |
Synonyms: |
Psen1-L166P |
Gene: |
Psen1 Location: Chr12:83734926-83781869 bp, + strand Genetic Position: Chr12, 38.84 cM
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Alliance: |
Psen1tm1.1Ruvi page
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Germline Transmission: |
Earliest citation of germline transmission:
J:187475
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
C57BL/6J
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Allele Type: |
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Targeted (Humanized sequence) |
Mutations: |
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Insertion, Single point mutation
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Mutation details: Exon 6 was replaced with one in which a point mutation (CTT to CCT) results in the amino acid substitution of proline for leucine at position 166 (L166P), mimicking a mutation found in some familial Alzheimer disease (FAD) patients. Cre-mediated recombination removed the floxed neo cassette.
(J:187475)
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View phenotypes and curated references for all genotypes (concatenated display).
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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Carrying any Psen1 Mutation: |
46 strains or lines available
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Original: |
J:187475 Vidal R, et al., The Psen1-L166P-knock-in mutation leads to amyloid deposition in human wild-type amyloid precursor protein YAC transgenic mice. FASEB J. 2012 Jul;26(7):2899-910 |
All: |
2 reference(s) |
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