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Psen1tm1Lpr
Targeted Allele Detail
Summary
Symbol: Psen1tm1Lpr
Name: presenilin 1; targeted mutation 1, Laurent Pradier
MGI ID: MGI:3510457
Synonyms: PS1KI, Ps1M233T,L235P
Gene: Psen1  Location: Chr12:83734926-83781869 bp, + strand  Genetic Position: Chr12, 38.84 cM
Alliance: Psen1tm1Lpr page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:93770
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted
Mutation:    Nucleotide substitutions
 
Mutation detailsTwo point mutations were introduced into exon 7: M233T and L235P, and a neomycin resistance gene inserted into intron 6. Western blot demonstrated a normal levels of protein in mutants. (J:93770)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
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:  48 strains or lines available
References
Original:  J:93770 Casas C, et al., Massive CA1/2 neuronal loss with intraneuronal and N-terminal truncated Abeta42 accumulation in a novel Alzheimer transgenic model. Am J Pathol. 2004 Oct;165(4):1289-300
All:  23 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory