Nf1^tm1.1Kest
Targeted Allele Detail

Summary

• Symbol: Nf1^tm1.1Kest
• Name: neurofibromin 1; targeted mutation 1.1, Robert A Kesterson
• MGI ID: MGI:6153136
• Synonyms: Nf1^Arg681*
• Gene: Nf1 Location: Chr11:79230519-79472438 bp, + strand Genetic Position: Chr11, 46.74 cM, cytoband B4-5
• Alliance: Nf1^tm1.1Kest page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:234172
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence, Null/knockout)
• Mutation: Single point mutation
• Mutation details: Arginine codon 683 (CGA) in exon 18 was changed to a stop codon (TGA) (p.R683*) and an FRT site flanked neomycin selection cassette was inserted into intron 17. Flp-mediated recombination removed the selection cassette. The mutation recapitulates the human c.2041C>T p.Arg681* variant associated with Neurofibromatosis type 1 (NF1). (J:234172)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 157 strains or lines available

References

• Original: J:234172 Li K, et al., Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I. Dis Model Mech. 2016 Jul 1;9(7):759-67
• All: 3 reference(s)