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Targeted Allele Detail
Symbol: Psen1tm1Dgf
Name: presenilin 1; targeted mutation 1, Dorothy G Flood
MGI ID: MGI:3608968
Synonyms: PS-1P264L, PS1P264L, Psen1tm1Rsim
Gene: Psen1  Location: Chr12:83688152-83735199 bp, + strand  Genetic Position: Chr12, 38.84 cM
Germline Transmission:  Earliest citation of germline transmission: J:102425
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
Mutation detailsA targeting construct was designed to insert a P264L mutation into exon 8. Northern blot demonstrated mRNA levels were comparable in mutants and wild-type mice. Western blot indicated that despite normal mRNA expression, expression of N- and C-terminal fragments was reduced by about 50%. (J:102425)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  35 strains or lines available
Original:  J:102425 Flood DG, et al., FAD mutant PS-1 gene-targeted mice: increased A beta 42 and A beta deposition without APP overproduction. Neurobiol Aging. 2002 May-Jun;23(3):335-48
All:  24 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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