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Psen1tm1Hko
Targeted Allele Detail
Summary
Symbol: Psen1tm1Hko
Name: presenilin 1; targeted mutation 1, Haruhiko Koseki
MGI ID: MGI:1932738
Synonyms: e delta9, Psen1deltaE9
Gene: Psen1  Location: Chr12:83734926-83781869 bp, + strand  Genetic Position: Chr12, 38.84 cM
Alliance: Psen1tm1Hko page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:67969
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 details: Exon 9, encoding a proteolytic cleavage site, and flanking intronic sequence were replaced with a neomycin resistance gene cassette. A reduced level of mRNA was detectable by RT-PCR from this allele; sequence analysis revealed splicing from exon 8 to exon 10 without frameshift. However, Western blot analysis revealed that expression of the protein was abolished, and this allele is suggested to be a null. (J:67969)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 26 assay results
In Structures Affected by this Mutation: 10 anatomical structure(s)
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: 0 lines available
Carrying any Psen1 Mutation:  48 strains or lines available
References
Original:  J:67969 Koizumi Ki, et al., The role of presenilin 1 during somite segmentation. Development. 2001 Apr;128(8):1391-402
All:  2 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
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory