Pole^em2Ewht
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pole^em2Ewht
• Name: polymerase (DNA directed), epsilon; endonuclease-mediated mutation 2, Eileen White
• MGI ID: MGI:7797731
• Synonyms: Pole L424V
• Gene: Pole Location: Chr5:110434185-110485319 bp, + strand Genetic Position: Chr5, 53.45 cM, cytoband E3-E5
• Alliance: Pole^em2Ewht page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: Using an sgRNA (equivalent to TGTGGGCAGTCATAATCTCA) and an ssODN template with CRISPR/Cas9 technology, codon 424 was changed from leucine (CTC) to valine (GTT) (g.GRCm39:chr5:110444915_110444917CTC>GTT, p.L424V) (J:364251)

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 Pole Mutation: 103 strains or lines available

References

• Original: J:364251 Sawant A, et al., Immune Checkpoint Blockade Delays Cancer Development and Extends Survival in DNA Polymerase Mutator Syndromes. Cancer Res. 2025 Mar 14;85(6):1130-1144
• All: 1 reference(s)