Psen1^tm2Pggd
Targeted Allele Detail

Summary

• Symbol: Psen1^tm2Pggd
• Name: presenilin 1; targeted mutation 2, Paul Greengard
• MGI ID: MGI:6156095
• Synonyms: PS1 S367D
• Gene: Psen1 Location: Chr12:83734926-83781869 bp, + strand Genetic Position: Chr12, 38.84 cM
• Alliance: Psen1^tm2Pggd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:244817
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: Serine codon 367 (AGC) in exon 10 was changed to aspartic acid (p.S367D). In the encoded protein the mutation changes a phosphorylatable residue to a phosphomimetic. (J:244817)

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: 63 strains or lines available

References

• Original: J:244817 Bustos V, et al., Bidirectional regulation of Abeta levels by Presenilin 1. Proc Natl Acad Sci U S A. 2017 Jul 03;114(27):7142-7147
• All: 2 reference(s)