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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 and curated references 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:  96 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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MGI 6.12
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