Psen1^tm1.1Tcs
Targeted Allele Detail

Summary

• Symbol: Psen1^tm1.1Tcs
• Name: presenilin 1; targeted mutation 1.1, Takaomi C Saido
• MGI ID: MGI:5292236
• Synonyms: PS1-R278I
• Gene: Psen1 Location: Chr12:83734926-83781869 bp, + strand Genetic Position: Chr12, 38.84 cM
• Alliance: Psen1^tm1.1Tcs page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:175901
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 8 was replaced with a neo cassette and a modified exon 8 in which a G to T mutation results in the amino acid substitution of isoleucine for arginine at position 278 (R278I), mimicking a mutation found in a pedigree bearing atypical Alzheimer's disease with language impairment. Cre-mediated recombination removed the neo cassette. (J:175901)

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:175901 Saito T, et al., Potent amyloidogenicity and pathogenicity of Abeta43. Nat Neurosci. 2011 Aug;14(8):1023-32
• All: 2 reference(s)