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)

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)