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Targeted Allele Detail
Symbol: Nf1tm1Cbr
Name: neurofibromin 1; targeted mutation 1, Camilyn Brannan
MGI ID: MGI:2137365
Synonyms: Nf123a-
Gene: Nf1  Location: Chr11:79339693-79581612 bp, + strand  Genetic Position: Chr11, 46.74 cM, cytoband B4-5
Germline Transmission:  Earliest citation of germline transmission: J:68489
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
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)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Nf1 Mutation:  85 strains or lines available
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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory