Stmn2^{em8(STMN2*)Lutzy}
Endonuclease-mediated Allele Detail

Summary

• Symbol: Stmn2^{em8(STMN2*)Lutzy}
• Name: stathmin-like 2; endonuclease-mediated mutation 8, Cathy Lutz
• MGI ID: MGI:7343684
• Synonyms: Stmn2^HumdeltaGU
• Gene: Stmn2 Location: Chr3:8574587-8626664 bp, + strand Genetic Position: Chr3, 2.15 cM
• Alliance: Stmn2^{em8(STMN2*)Lutzy} page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Stmn2^{em8(STMN2*)Lutzy} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  STMN2 (11075)

  Stmn2

  (MGI:98241)

  insertion of human exon2a modified to to include the MS2 stem loop sequence and replace the TDP43 binding element.

• Mutation details: CRISPR/cas9 endonuclease-mediated genome editing uses guide RNAs were selected to target intron 1 and insert a modified human SMNT2 exon 2a. The humanized/mutant exon 2a in this strain is 222nt in length and is flanked by 1491 bp and 1548 bp of human genomic DNA, located 5'- and 3'- of exon 2a, respectively. The 19-nt MS2 stem loop contains the sequence 5'-ACATGAGGATCACCCATGT-3' is used to replace the 24-nt TDP-43 binding sequence 5';-TGTGTGAGCATGTGTGCGTGTGTG-3' in the 3';-UTR of the exon2a-containing mouse-human hybrid STMN2 prematurely terminated mRNA transcript. (J:334251)

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 Stmn2 Mutation: 42 strains or lines available

References

• Original: J:334251 Baughn MW, et al., Mechanism of STMN2 cryptic splice-polyadenylation and its correction for TDP-43 proteinopathies. Science. 2023 Mar 17;379(6637):1140-1149
• All: 1 reference(s)