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Psen1tm1Mpm
Targeted Allele Detail
Nomenclature
Symbol: Psen1tm1Mpm
Name: presenilin 1; targeted mutation 1, Mark P Mattson
MGI ID: MGI:1930937
Synonyms: PS1KI, PS1M146V, PS-1 M146V KI, PS1M146VKI-
Gene: Psen1  Location: Chr12:83688152-83735095 bp, + strand  Genetic Position: Chr12, 38.84 cM
Amyloid beta deposits in Apptm3.1Zhe/Apptm3.1Zhe Psen1tm1Mpm/Psen1tm1Mpm mice

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:51950
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsPoint mutations were introduced into the coding region of exon 5 that altered the codons corresponding to amino acids 145 and 146 from isoleucine and methionine to valine and valine, respectively, and a BstEII restriction site. A lox-P flanked neomycin cassette was also introduced into exon 4. F2 mice exhibited the expected polymorphism of the targeted allele when genomic DNA was amplified with exon 5 specific primers and the products were digested with the appropriate restriction enzyme. Northern blot analysis of total brain RNA using a Psen1 specific antibody showed that the targeted allele was expressed at normal physiological levels in homozygous mutant mice. (J:51950)
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: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 3 lines available
Carrying any Psen1 Mutation:  37 strains or lines available
References
Original:  J:51950 Guo Q, et al., Increased vulnerability of hippocampal neurons to excitotoxic necrosis in presenilin-1 mutant knock-in mice. Nat Med. 1999 Jan;5(1):101-6
All:  327 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
01/21/2020
MGI 6.14
The Jackson Laboratory