Psen2<tm1Ber> Targeted Allele Detail MGI Mouse (MGI:1930939)

Psen2^tm1Ber
Targeted Allele Detail

Summary

Symbol:	Psen2^tm1Ber
Name:	presenilin 2; targeted mutation 1, Alan Bernstein
MGI ID:	MGI:1930939
Synonyms:	PS2^-
Gene:	Psen2 Location: Chr1:180054569-180091003 bp, - strand Genetic Position: Chr1, 84.19 cM
Alliance:	Psen2^tm1Ber page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:58465
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation
description

Allele Type:		Targeted (Null/knockout)
Mutations:		Insertion, Intragenic deletion
		Mutation details: Replacement of four codons in exon 5, corresponding to an RCYK motif in the second transmembrane domain, with a neomycin cassette. Brain extracts from homologous mutant mice showed no detectable Psen2 on Western blots using antibodies directed against the hydrophilic loop and the amino terminus of the protein. (J:58465)

Phenotypes

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

Disease models

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

Find Mice (IMSR)

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:	32 strains or lines available

References

Original:	J:58465 Donoviel DB, et al., Mice lacking both presenilin genes exhibit early embryonic patterning defects. Genes Dev. 1999 Nov 1;13(21):2801-10
All:	30 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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