|
|
| 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 (knock-out) |
|
Mutation: | |
Insertion |
| |
|
Mutation details: Insertion 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
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
|
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: |
50 reference(s)
|
|
Analysis Tools
