Psen1^tm1Psgh
Targeted Allele Detail

Summary

• Symbol: Psen1^tm1Psgh
• Name: presenilin 1; targeted mutation 1, Peter St George-Hyslop
• MGI ID: MGI:2155771
• Synonyms: PS1-
• Gene: Psen1 Location: Chr12:83734926-83781869 bp, + strand Genetic Position: Chr12, 38.84 cM
• Alliance: Psen1^tm1Psgh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:66016
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A loxP flanked neomycin resistance cassette was introduced approximately 0.2 kb downstream of exon 5 of the gene. The presence of cryptic splice sites within the neomycin cassette resulted in the generation of low quantities of unstable transcripts, which lacked an open reading frame after exon 5. The authors state "these transcripts result in no detectable protein in ES cells or in the brains of animals homozygous for this construct". (J:66016)

Disease models

Expression

In Structures Affected by this Mutation:

1 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:66016 Chen F, et al., Carboxyl-terminal fragments of alzheimer beta -amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells. J Biol Chem. 2000 Nov 24;275(47):36794-802
• All: 2 reference(s)