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Psen2tm1Ber
Targeted Allele Detail
Summary
Symbol: Psen2tm1Ber
Name: presenilin 2; targeted mutation 1, Alan Bernstein
MGI ID: MGI:1930939
Synonyms: PS2-
Gene: Psen2  Location: Chr1:180054569-180091003 bp, - strand  Genetic Position: Chr1, 84.19 cM
Alliance: Psen2tm1Ber page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:58465
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsReplacement of four codons in exon 5, corresponding to an RCYK motif in the second transmembrane domain, with a neomycin cassette. Brain extracts from homologous mutant mice showed no detectable Psen2 on Western blots using antibodies directed against the hydrophilic loop and the amino terminus of the protein. (J:58465)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(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 Psen2 Mutation:  31 strains or lines available
References
Original:  J:58465 Donoviel DB, et al., Mice lacking both presenilin genes exhibit early embryonic patterning defects. Genes Dev. 1999 Nov 1;13(21):2801-10
All:  30 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
03/12/2024
MGI 6.23
The Jackson Laboratory