Nf1^em2Gtm
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nf1^em2Gtm
• Name: neurofibromin 1; endonuclease-mediated mutation 2, David H Gutmann
• MGI ID: MGI:7488392
• Synonyms: Nf1^R1278P
• Gene: Nf1 Location: Chr11:79230519-79472438 bp, + strand Genetic Position: Chr11, 46.74 cM, cytoband B4-5
• Alliance: Nf1^em2Gtm page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Single point mutation
• Mutation details: Arginine codon 1278 (CGA) was changed to proline (CCA) (p.R1278P) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human c.3827G>C, p.Arg1276Pro mutation associated with neurofibromatosis 1 (NF1). (J:324999)

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 Nf1 Mutation: 158 strains or lines available

References

• Original: J:324999 Anastasaki C, et al., Neuronal hyperexcitability drives central and peripheral nervous system tumor progression in models of neurofibromatosis-1. Nat Commun. 2022 May 19;13(1):2785
• All: 2 reference(s)