Nf1^tm1Cbr
Targeted Allele Detail

Summary

• Symbol: Nf1^tm1Cbr
• Name: neurofibromin 1; targeted mutation 1, Camilyn Brannan
• MGI ID: MGI:2137365
• Synonyms: Nf1^23a-
• Gene: Nf1 Location: Chr11:79230519-79472438 bp, + strand Genetic Position: Chr11, 46.74 cM, cytoband B4-5
• Alliance: Nf1^tm1Cbr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:68489
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance cassette replaced 300 bp of genomic DNA including exon 23a. RT-PCR analysis of brain detected neurofibromin type I but not the type II isoform in homozygous mutant mice. Western blot analysis detected the type I but not the type II neurofibronin in brain of homozygous mutant mice. Immunohistochemical analysis of brain did not detect type II neurofibromin isoform in homozygous mutant mice. (J:68489)

Disease models

Tumor Data

List all tumor models in MMHCdb carrying Nf1^tm1Cbr

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 Nf1 Mutation: 161 strains or lines available

References

• Original: J:68489 Costa RM, et al., Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Nat Genet. 2001 Apr;27(4):399-405
• All: 2 reference(s)