Psen1^tm1Dgf
Targeted Allele Detail

Summary

• Symbol: Psen1^tm1Dgf
• Name: presenilin 1; targeted mutation 1, Dorothy G Flood
• MGI ID: MGI:3608968
• Synonyms: PS-1^P264L, PS1^P264L, Psen1^tm1Rsim
• Gene: Psen1 Location: Chr12:83734926-83781869 bp, + strand Genetic Position: Chr12, 38.84 cM
• Alliance: Psen1^tm1Dgf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:102425
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence, Modified isoform(s))
• Mutation: Nucleotide substitutions
• Mutation details: A targeting construct was designed to insert a P264L mutation into exon 8. Northern blot demonstrated mRNA levels were comparable in mutants and wild-type mice. Western blot indicated that despite normal mRNA expression, expression of N- and C-terminal fragments was reduced by about 50%. (J:102425)

Disease models

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: 46 strains or lines available

References

• Original: J:102425 Flood DG, et al., FAD mutant PS-1 gene-targeted mice: increased A beta 42 and A beta deposition without APP overproduction. Neurobiol Aging. 2002 May-Jun;23(3):335-48
• All: 29 reference(s)