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Nf1tm1Fcr
Targeted Allele Detail
Nomenclature
Symbol: Nf1tm1Fcr
Name: neurofibromatosis 1; targeted mutation 1, Fredrick Cancer Research and Development Center
MGI ID: MGI:1857444
Synonyms: Nf1-, Nf1Fcr, Nf1mut
Gene: Nf1  Location: Chr11:79339693-79581612 bp, + strand  Genetic Position: Chr11, 46.74 cM, cytoband B4-5
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:18048
Parent Cell Line:  CCE/EK.CCE (ES Cell)
Strain of Origin:  129S/SvEv-Gpi1c
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsInsertion of a neomycin cassette in the opposite transcriptional orientation into exon 31 of the Nf1 gene. Exon 31 was chosen as the mutation site because several point mutations exist at this site in human NF1 patients. This allele is a null allele; no RNA or protein is made from this mutated allele. (J:18048)
Phenotypes
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Disease models
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Expression
In Mice Carrying this Mutation: 6 assay results
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:  22 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Glioblastoma Multiforme (in combination with neuronal deletion of Trp53, J:149662)

References
Original:  J:18048 Brannan CI, et al., Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues [published erratum appears in Genes Dev 1994 Nov 15;8(22):2792]. Genes Dev. 1994 May 1;8(9):1019-29
All:  58 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory