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

Symbol: Psen2tm1Bdes Name: presenilin 2; targeted mutation 1, Bart de Strooper MGI ID: MGI:2149117 Synonyms: PS2- Gene: Psen2  Location: Chr1:180054569-180091003 bp, - strand  Genetic Position: Chr1, 84.19 cM Alliance: Psen2tm1Bdes page

Phenotypical analysis of Psen2tm1Bdes/Psen2tm1Bdes mice Show the 2 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:58118
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Replacement of exon 5 by a hygromycin cassette resulted in a frame shift between exons 4 and 6. Northern blots of RNA from brain, kidney, lung, heart, and liver of homozygous mutant mice confirmed the null mutation of the Psen2 gene. Western blots of the same tissues from homozygous mutant mice using antibodies specific for both the N- and C-termini of the Psen2 protein confirmed the mutation. (J:58118)

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

In Mice Carrying this Mutation:	21 assay results
In Structures Affected by this Mutation:	3 anatomical structure(s)

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 Psen2 Mutation:	31 strains or lines available

Original:	J:58118 Herreman A, et al., Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency. Proc Natl Acad Sci U S A. 1999 Oct 12;96(21):11872-7
All:	26 reference(s)