About   Help   FAQ
Targeted Allele Detail
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: Chr12:83734926-83781869 bp, + strand  Genetic Position: Chr12, 38.84 cM
Alliance: Psen1tm1Mpm page
Amyloid beta deposits in Apptm3.1Zhe/Apptm3.1Zhe Psen1tm1Mpm/Psen1tm1Mpm mice

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

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+
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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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: 4 strains available      Cell Lines: 3 lines available
Carrying any Psen1 Mutation:  43 strains or lines available
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:  513 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
MGI 6.22
The Jackson Laboratory