Psen2<tm1Bdes> Targeted Allele Detail MGI Mouse (MGI:2149117)

Psen2^tm1Bdes
Targeted Allele Detail

Summary

Symbol:	Psen2^tm1Bdes
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:	Psen2^tm1Bdes page

Phenotypical analysis of Psen2^tm1Bdes/Psen2^tm1Bdes mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin

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

Mutation
description

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)

Phenotypes

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

Disease models

Expression

In Mice Carrying this Mutation:	21 assay results
In Structures Affected by this Mutation:	2 anatomical structure(s)

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 Psen2 Mutation:	32 strains or lines available

References

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:	28 reference(s)

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