Psen1^tm1Tak
Targeted Allele Detail

Summary

• Symbol: Psen1^tm1Tak
• Name: presenilin 1; targeted mutation 1, Junji Takeda
• MGI ID: MGI:3583662
• Synonyms: mPS1, PS1 I213T, PS1/I213T
• Gene: Psen1 Location: Chr12:83734926-83781869 bp, + strand Genetic Position: Chr12, 38.84 cM
• Alliance: Psen1^tm1Tak page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:56247
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted
• Mutation: Insertion
• Mutation details: An I213T (p.Ile213Thr) mutation was introduced into exon 7. A neomycin resistance (Neo) gene flanked by two loxP sites was inserted into intron 6 for selection and was subsequently removed via cre-mediated recombination. Northern blot and RT-PCR demonstrated that the levels of transcript in mutants were comparable to that in wild-type. Elevated levels of the amyloid beta peptide 42 were dected in homozygous mice. (J:56247)

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:56247 Nakano Y, et al., Accumulation of murine amyloidbeta42 in a gene-dosage-dependent manner in PS1 'knock-in' mice. Eur J Neurosci. 1999 Jul;11(7):2577-81
• All: 9 reference(s)