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Psen1tm1Shn
Targeted Allele Detail
Nomenclature
Symbol: Psen1tm1Shn
Name: presenilin 1; targeted mutation 1, Jie Shen
MGI ID: MGI:1857974
Synonyms: PS1-
Gene: Psen1  Location: Chr12:83688203-83735199 bp, + strand  Genetic Position: Chr12, 38.84 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:40365
Parent Cell Line:  AB2.1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 3 of the Psen1 gene, encoding the translation initiation codon, was deleted and replaced with a neomycin cassette. Northern blots of brain tissue from homozygous mutant mice showed a small amount of mutant Psen1 mRNA, smaller in size than wild-type Psen1. IP-Western blotting detected no C-terminal protein fragment in homozygous mutant mice. The authors conclude that this mutant is a null allele. (J:40365)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 89 assay results
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:  22 strains or lines available
References
Original:  J:40365 Shen J, et al., Skeletal and CNS defects in Presenilin-1-deficient mice. Cell. 1997 May 16;89(4):629-39
All:  19 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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last database update
05/12/2015
MGI 5.21
The Jackson Laboratory