Nudt15^em1Maska
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nudt15^em1Maska
• Name: nudix hydrolase 15; endonuclease-mediated mutation 1, Masahiro Kawahara
• MGI ID: MGI:7595847
• Synonyms: Nudt15^R138C
• Gene: Nudt15 Location: Chr14:73756320-73785682 bp, - strand Genetic Position: Chr14, 39.06 cM
• Alliance: Nudt15^em1Maska page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Arginine codon 138 (CGC) in exon 5 was changed to cysteine (TGC) (c.412C>T, p.R138C) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.R139C mutation (c.415C>T, SNP rs116855232) associated with severe thiopurine-induced leukocytopenia. Transcript and protein expression from this allele is the same as wild-type. (J:285800)

Disease models

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 Nudt15 Mutation: 9 strains or lines available

References

• Original: J:285800 Tatsumi G, et al., Thiopurine-mediated impairment of hematopoietic stem and leukemia cells in Nudt15(R138C) knock-in mice. Leukemia. 2020 Mar;34(3):882-894
• All: 3 reference(s)