Psen1^{tm1.1(PSEN1)Mdk}
Targeted Allele Detail

Summary

• Symbol: Psen1^{tm1.1(PSEN1)Mdk}
• Name: presenilin 1; targeted mutation 1.1, Michael D Koob
• MGI ID: MGI:7576962
• Synonyms: PSEN1-GR
• Gene: Psen1 Location: Chr12:83734926-83781869 bp, + strand Genetic Position: Chr12, 38.84 cM
• Alliance: Psen1^{tm1.1(PSEN1)Mdk} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:347607
• Parent Cell Line: PRX-B6N (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence, Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Psen1^{tm1.1(PSEN1)Mdk} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  PSEN1 (5663)

  Psen1

  (MGI:1202717)

• Mutation details: The targeting vector is designed to insert a 106 kb (Chr14:73121400 - 73227703) fragment of the human PSEN1 in place of Chr12:83730110 - 83793335 of the mouse Psen1 gene. The construct includes a loxP-flanked neomycin selection cassette. In addition, there is also a PSEN1-DT (non-coding antisense RNA) in the human genome segment. The insertion disrupts Psen1 transcription. The neomycin cassette was removed by transient expression of Cre. (J:101977, J:347607)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Psen1 Mutation: 61 strains or lines available

References

• Original: J:347607 Benzow K, et al., Gene replacement-Alzheimer's disease (GR-AD): Modeling the genetics of human dementias in mice. Alzheimers Dement. 2024 Apr;20(4):3080-3087
• All: 2 reference(s)