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Targeted Allele Detail
Symbol: Psen1tm1Shn
Name: presenilin 1; targeted mutation 1, Jie Shen
MGI ID: MGI:1857974
Synonyms: PS1-
Gene: Psen1  Location: Chr12:83734926-83781869 bp, + strand  Genetic Position: Chr12, 38.84 cM
Germline Transmission:  Earliest citation of germline transmission: J:40365
Parent Cell Line:  AB2.1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 91 assay results
In Structures Affected by this Mutation: 27 anatomical structures
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:  42 strains or lines available
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:  23 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)
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MGI 6.17
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