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Psen1tm1.1Ruvi
Targeted Allele Detail
Nomenclature
Symbol: Psen1tm1.1Ruvi
Name: presenilin 1; targeted mutation 1.1, Ruben Vidal
MGI ID: MGI:5439663
Synonyms: Psen1-L166P
Gene: Psen1  Location: Chr12:83688203-83735199 bp, + strand  Genetic Position: Chr12, 38.84 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:187475
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Single point mutation
 
Mutation detailsExon 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). Cre-mediated recombination removed the floxed neo cassette. (J:187475)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Find Mice (IMSR)
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
Carrying any Psen1 Mutation:  22 strains or lines available
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/07/2015
MGI 5.21
The Jackson Laboratory