Psen1^tm2Psgh
Targeted Allele Detail

Summary

• Symbol: Psen1^tm2Psgh
• Name: presenilin 1; targeted mutation 2, Peter St George-Hyslop
• MGI ID: MGI:2446469
• Synonyms: Ps1^-
• Gene: Psen1 Location: Chr12:83734926-83781869 bp, + strand Genetic Position: Chr12, 38.84 cM
• Alliance: Psen1^tm2Psgh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:80624
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Inserted expressed sequence, Null/knockout)
• Mutation: Disruption caused by insertion of vector
• Mutation details: A methionine to leucine missense mutation (M146L) was introduced into exon 6 via homologous recombination of a construct modified by PCR-mediated mutagenesis and containing a neomycin selection cassette approximately 150 bp into intron 6. The expected mutant transcript was undetected by Northern blot analysis, possibly due to the neo cassette affecting either expression or proper splicing. Low levels of transcript (0.5 to 1% of wild-type) were detected by RT-PCR analysis of RNA obtained from the brain and dorsal spinal cord, however no protein was identified by Western blot analysis. Accumulations of amyloid beta (A4) precursor protein (APP) fragments resulting from alpha- and beta-cleavage in the absence of gamma-cleavage further indicated the complete loss of normal protein expression. (J:80624)

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:80624 Rozmahel R, et al., Normal brain development in PS1 hypomorphic mice with markedly reduced gamma-secretase cleavage of betaAPP. Neurobiol Aging. 2002 Mar-Apr;23(2):187-94
• All: 4 reference(s)