Nf1^tm1Tyj
Targeted Allele Detail

Summary

• Symbol: Nf1^tm1Tyj
• Name: neurofibromin 1; targeted mutation 1, Tyler Jacks
• MGI ID: MGI:1857478
• Synonyms: Nf1-, Nf1ⁿ³¹
• Gene: Nf1 Location: Chr11:79230519-79472438 bp, + strand Genetic Position: Chr11, 46.74 cM, cytoband B4-5
• Alliance: Nf1^tm1Tyj page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:18542
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance cassette replaced the first 42 codons of exon 31, the exon 31 splice acceptor site, and approximately 2 kb of intron 30. This allele is a null allele; no stable full-length protein is made. (J:18542)

Disease models

Expression

In Mice Carrying this Mutation:	8 assay results
In Structures Affected by this Mutation:	7 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Nf1^tm1Tyj

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Nf1 Mutation: 161 strains or lines available

References

• Original: J:18542 Jacks T, et al., Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nat Genet. 1994 Jul;7(3):353-61
• All: 96 reference(s)