Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Psen1tm1Pcw
Name:	presenilin 1; targeted mutation 1, Philip C Wong
MGI ID:	MGI:1930934
Synonyms:	PS1-
Gene:	Psen1  Location: Chr12:83734926-83781869 bp, + strand  Genetic Position: Chr12, 38.84 cM
Alliance:	Psen1tm1Pcw page

Germline Transmission:	Earliest citation of germline transmission: J:40308
Parent Cell Line:	AB2.1 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1b-m2

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A neomycin resistance cassette replaced 1.9kb of sequence containing the second coding exon. Immunoblot analysis using antibodies specific for epitopes contained within each of the endoproteolytic products of the gene did not detect protein in SDS extracts of homozygous mutant E18.5 embryos. (J:40308)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	49 assay results
In Structures Affected by this Mutation:	10 anatomical structure(s)

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:	46 strains or lines available

Original:	J:40308 Wong PC, et al., Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesoderm. Nature. 1997 May 15;387(6630):288-92
All:	40 reference(s)