Psmf1^em1Hs
Endonuclease-mediated Allele Detail

Summary

• Symbol: Psmf1^em1Hs
• Name: proteasome (prosome, macropain) inhibitor subunit 1; endonuclease-mediated mutation 1, Hermann Steller
• MGI ID: MGI:6835661
• Synonyms: PI31^CRISP
• Gene: Psmf1 Location: Chr2:151557982-151586114 bp, - strand Genetic Position: Chr2, 74.83 cM
• Alliance: Psmf1^em1Hs page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/CAS9 technology generated a 16 bp deletion (nucleotide 103 to 118) in exon 1, resulting in a frame shift and a premature stop codon in the second exon at nucleotide 239. Western blot analysis confirmed absence of protein. (J:282431)

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 Psmf1 Mutation: 11 strains or lines available

References

• Original: J:282431 Minis A, et al., The proteasome regulator PI31 is required for protein homeostasis, synapse maintenance, and neuronal survival in mice. Proc Natl Acad Sci U S A. 2019 Dec 3;116(49):24639-24650
• All: 1 reference(s)