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Psen1tm1Vln
Targeted Allele Detail

Nomenclature
Symbol: Psen1tm1Vln
Name: presenilin 1; targeted mutation 1, Fred Van Leuven
MGI ID: MGI:2684616
Synonyms: PS1-flox
Gene: Psen1   Location: Chr12:85029513-85076149 bp, + strand    Genetic Position: Chr12, 37.0 cM
Mutation
origin
Germline Transmission: Earliest citation of germline transmission: J:87229
Parent Cell Line: E14 (ES Cell)
Strain of Origin: 129P2/OlaHsd
Mutation
description
Allele Type: Targeted (Floxed/Frt)
Mutation: Insertion
  Exon 7 was flanked by a single loxP site in intron 6 and floxed neo cassette in intron 7. (J:87229)
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: 17 strains or lines available
Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

      Key:  
hm homozygous ht heterozygous
cn conditional genotype  cx complex: > 1 genome feature
tg involves transgenes ot other: hemizygous, indeterminate,...
N normal phenotype expected model not found
Affected SystemsGenotypes:
 
hm1
 
cn2
 
cn3
  
behavior/neurological          
 N
  
nervous system          
 
  
other phenotype          
 N
  
normal phenotype          
N  
 
  
Disease Models          
  
Phenotypic
data by
genotype
Phenotypic Data by Genotype

(show or hide all phenotypic details)

GenotypeAllelic CompositionGenetic Background
  
 hm1   
Psen1tm1Vln/Psen1tm1Vln Not Specified
  
 cn2   
Psen1tm1Vln/Psen1tm1Vln
Tg(Thy1-APPLon)2Vln/0
Tg(Thy1-cre)1Vln/0
involves: FVB/N
  
 cn3   Disease Model  
Psen1tm1Vln/Psen1tm1Vln
Tg(Thy1-cre)1Vln/0
involves: FVB/N
Disease
models
Mouse Models
of Human Disease
NoteGenotypeRef(s)
 
Allelic Composition
Genetic Background
Models with phenotypic similarity to human diseases associated with human PSEN1.
Alzheimer Disease 3
OMIM ID: 607822
1
 
cn3
Psen1tm1Vln/Psen1tm1Vln
Tg(Thy1-cre)1Vln/0
involves: FVB/NJ:87229
Models with phenotypic similarity to human diseases not associated with human PSEN1.
Alzheimer Disease; AD
OMIM ID: 104300
1
 
cn3
Psen1tm1Vln/Psen1tm1Vln
Tg(Thy1-cre)1Vln/0
involves: FVB/NJ:87229
1Conditionally targeted allele(s).
References
Original: J:87229 Dewachter I et al., "Neuronal deficiency of presenilin 1 inhibits amyloid plaque formation and corrects hippocampal long-term potentiation but not a cognitive defect of amyloid precursor protein [V717I] transgenic mice." J Neurosci 2002 May 1;22(9):3445-53
All: 5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/20/2009
MGI_4.31
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