Psen1^tm1.1Ruvi
Targeted Allele Detail

Summary

• Symbol: Psen1^tm1.1Ruvi
• Name: presenilin 1; targeted mutation 1.1, Ruben Vidal
• MGI ID: MGI:5439663
• Synonyms: Psen1-L166P
• Gene: Psen1 Location: Chr12:83734926-83781869 bp, + strand Genetic Position: Chr12, 38.84 cM
• Alliance: Psen1^tm1.1Ruvi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:187475
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 6 was replaced with one in which a point mutation (CTT to CCT) results in the amino acid substitution of proline for leucine at position 166 (L166P), mimicking a mutation found in some familial Alzheimer disease (FAD) patients. Cre-mediated recombination removed the floxed neo cassette. (J:187475)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(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 Psen1 Mutation: 48 strains or lines available

References

• Original: J:187475 Vidal R, et al., The Psen1-L166P-knock-in mutation leads to amyloid deposition in human wild-type amyloid precursor protein YAC transgenic mice. FASEB J. 2012 Jul;26(7):2899-910
• All: 2 reference(s)