Npm1^em1Ppp
Endonuclease-mediated Allele Detail

Summary

• Symbol: Npm1^em1Ppp
• Name: nucleophosmin 1; endonuclease-mediated mutation 1, Pier Paolo Pandolfi
• MGI ID: MGI:7606834
• Synonyms: Npm-D180
• Gene: Npm1 Location: Chr11:33102287-33113206 bp, - strand Genetic Position: Chr11, 19.21 cM
• Alliance: Npm1^em1Ppp page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR-targeting deleted 180 bp. For genotyping, a DraI restriction site was inserted into the single-stranded oligo-deoxynucleotide by mutating the sequence TTCAAA to TTTAAA. (J:292542)

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 Npm1 Mutation: 34 strains or lines available

References

• Original: J:292542 Nachmani D, et al., Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita. Nat Genet. 2019 Oct;51(10):1518-1529
• All: 1 reference(s)