About   Help   FAQ
Fbn1tm1Rmz
Targeted Allele Detail
Nomenclature
Symbol: Fbn1tm1Rmz
Name: fibrillin 1; targeted mutation 1, Francesco Ramirez
MGI ID: MGI:1934905
Synonyms: mg delta
Gene: Fbn1  Location: Chr2:125300594-125507993 bp, - strand  Genetic Position: Chr2, 61.38 cM, cytoband F
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:43199
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA neomycin selection cassette replaced a 6 kb genomic fragment containing exons 19-24, resulting in an in-frame deletion of coding sequences. Quantitative RT-PCR analysis on RNA derived from lungs, skin and skeletal muscles of homozygous mice demonstrated that a mutant transcript was produced from this allele, although approximately at ten-fold reduced levels compared to wild-type. Immunoprecipitation and immunocytochemistry experiments on fibroblasts isolated from homozygous mice confirmed that a shortened protein was made at reduced levels compared to wild-type. (J:43199)
Phenotypes
Loading...
View phenotypes for all genotypes (concatenated display).
Disease models
Loading...
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Fbn1 Mutation:  6 strains or lines available
References
Original:  J:43199 Pereira L, et al., Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat Genet. 1997 Oct;17(2):218-22
All:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/20/2015
MGI 5.22
The Jackson Laboratory