Nf1^{tm1c(KOMP)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Nf1^{tm1c(KOMP)Wtsi}
• Name: neurofibromin 1; targeted mutation 1c, Wellcome Trust Sanger Institute
• MGI ID: MGI:6153138
• Synonyms: Nf1^4F
• Gene: Nf1 Location: Chr11:79230519-79472438 bp, + strand Genetic Position: Chr11, 46.74 cM, cytoband B4-5
• Alliance: Nf1^{tm1c(KOMP)Wtsi} page
• IMPC: Nf1 gene page

Mutation origin

• Mutant Cell Line: EPD0033_1_F12
• Germline Transmission: Earliest citation of germline transmission: J:234172
• Parent Cell Line: JM8.F6 (ES Cell)
• Strain of Origin: C57BL/6N
• Project Collection: KOMP-CSD

Mutation description

• Allele Type: Targeted (Conditional ready)
• Mutation: Insertion Vector: L1L2_gt0
• Mutation details: The L1L2_gt0 cassette was inserted at position 79280528 of Chromosome 11 upstream of the critical exon 4 (Build GRCm39). The cassette is composed of an FRT flanked lacZ/neomycin sequence followed by a loxP site. An additional loxP site is inserted downstream of the targeted exon at position 79281558. The critical exon 4 is thus flanked by loxP sites. A "conditional ready" (floxed) allele is created by flp recombinase expression in mice carrying this allele. (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: 161 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)