About   Help   FAQ
Nf1tm1Cbr
Targeted Allele Detail
Summary
Symbol: Nf1tm1Cbr
Name: neurofibromin 1; targeted mutation 1, Camilyn Brannan
MGI ID: MGI:2137365
Synonyms: Nf123a-
Gene: Nf1  Location: Chr11:79230519-79472438 bp, + strand  Genetic Position: Chr11, 46.74 cM, cytoband B4-5
Alliance: Nf1tm1Cbr page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:68489
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
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)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Tumor Data
List all tumor models in MMHCdb carrying Nf1tm1Cbr
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:  157 strains or lines available
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory