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Psen1tm1Bdes
Targeted Allele Detail
Nomenclature
Symbol: Psen1tm1Bdes
Name: presenilin 1; targeted mutation 1, Bart de Strooper
MGI ID: MGI:2149116
Synonyms: PS1-
Gene: Psen1  Location: Chr12:83688203-83735199 bp, + strand  Genetic Position: Chr12, 38.84 cM
Psen1tm1Bdes/Psen1tm1Bdes Psen2tm1Bdes/Psen2tm1Bdes embryos display severe growth retardation at E9.5

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:71037
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsInsertion of a neomycin cassette resulted in interruption of the open reading frame in exon 7 of the gene. This position corresponds to 10 amino acid residues carboxyterminal of the third transmembrane domain of the protein. Northern blot analysis of whole embryo RNA showed no detectable mRNA in homozygous mutant embryos. Western blot analysis showed an absence of the 17 kD C-terminal fragment of the protein in homozygous mutant embryos. (J:71037)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Psen1 Mutation:  22 strains or lines available
References
Original:  J:71037 De Strooper B, et al., Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein. Nature. 1998 Jan 22;391(6665):387-90
All:  16 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
05/20/2015
MGI 5.22
The Jackson Laboratory