Psen1^tm4.1Shn
Targeted Allele Detail

Summary

• Symbol: Psen1^tm4.1Shn
• Name: presenilin 1; targeted mutation 4.1, Jie Shen
• MGI ID: MGI:5751732
• Synonyms: L435F
• Gene: Psen1 Location: Chr12:83734926-83781869 bp, + strand Genetic Position: Chr12, 38.84 cM
• Alliance: Psen1^tm4.1Shn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:219929
• Parent Cell Line: MKV6.5 (ES Cell)
• Strain of Origin: (C57BL/6 x 129)F1

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Single point mutation
• Mutation details: An L435F (1303C to T) mutation was inserted in exon 12 and a floxed neo cassette was inserted in intron 11 via homologous recombination. Cre mediated recombination removed the neo cassette. The mutation in exon 12 severely impairs gamma-secretase activity. (J:219929)

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:219929 Xia D, et al., Presenilin-1 Knockin Mice Reveal Loss-of-Function Mechanism for Familial Alzheimer's Disease. Neuron. 2015 Mar 4;85(5):967-81
• All: 2 reference(s)