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Targeted Allele Detail
Symbol: Psen1tm1Psgh
Name: presenilin 1; targeted mutation 1, Peter St George-Hyslop
MGI ID: MGI:2155771
Synonyms: PS1-
Gene: Psen1  Location: Chr12:83688152-83735199 bp, + strand  Genetic Position: Chr12, 38.84 cM
Germline Transmission:  Earliest citation of germline transmission: J:66016
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsA loxP flanked neomycin resistance cassette was introduced approximately 0.2 kb downstream of exon 5 of the gene. The presence of cryptic splice sites within the neomycin cassette resulted in the generation of low quantities of unstable transcripts, which lacked an open reading frame after exon 5. The authors state "these transcripts result in no detectable protein in ES cells or in the brains of animals homozygous for this construct". (J:66016)
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Psen1 Mutation:  36 strains or lines available
Original:  J:66016 Chen F, et al., Carboxyl-terminal fragments of alzheimer beta -amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells. J Biol Chem. 2000 Nov 24;275(47):36794-802
All:  2 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
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