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

Symbol:	Psen2tm1Haa
Name:	presenilin 2; targeted mutation 1, Christian Haass
MGI ID:	MGI:2664242
Synonyms:	PS2-
Gene:	Psen2  Location: Chr1:180054569-180091003 bp, - strand  Genetic Position: Chr1, 84.19 cM
Alliance:	Psen2tm1Haa page

Germline Transmission:	Earliest citation of germline transmission: J:83860
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: The gene was disrupted by insertion of a neomycin resistance cassette into exon 5 via homologous recombination. Absence of gene expression was confirmed by Northern and Western blot analysis of brain lysates from homozygous mutant animals. (J:83860)

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

In Mice Carrying this Mutation:

52043 assay results 4 RNA-Seq or microarray experiment(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 Psen2 Mutation:	31 strains or lines available

Original:	J:83860 Steiner H, et al., A loss of function mutation of presenilin-2 interferes with amyloid beta-peptide production and notch signaling. J Biol Chem. 1999 Oct 1;274(40):28669-73
All:	38 reference(s)