Psen1^tm3.1Shn
Targeted Allele Detail

Summary

• Symbol: Psen1^tm3.1Shn
• Name: presenilin 1; targeted mutation 3.1, Jie Shen
• MGI ID: MGI:5427478
• Synonyms: c.548GT^KI
• Gene: Psen1 Location: Chr12:83734926-83781869 bp, + strand Genetic Position: Chr12, 38.84 cM
• Alliance: Psen1^tm3.1Shn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:184454
• Parent Cell Line: MKV6.5 (ES Cell)
• Strain of Origin: (C57BL/6 x 129)F1

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 6 was replaced with a floxed neo cassette and a modified exon 6 with a transversion (c.548G>T) that results in the amino acid substitution of valine for glycine at position 183 (G183V), mimicking a mutation found in family suffering from a frontotemporal dementia (FTD). Cre-mediated recombination removed the neo cassette. (J:184454)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Psen1 Mutation: 48 strains or lines available

References

• Original: J:184454 Watanabe H, et al., Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knock-in mice. J Neurosci. 2012 Apr 11;32(15):5085-96
• All: 1 reference(s)