About   Help   FAQ
Targeted Allele Detail
Symbol: Fbn1tm3Rmz
Name: fibrillin 1; targeted mutation 3, Francesco Ramirez
MGI ID: MGI:3641232
Synonyms: Fbn1-, mgN
Gene: Fbn1  Location: Chr2:125300594-125507993 bp, - strand  Genetic Position: Chr2, 61.38 cM, cytoband F
Fbn1tm3Rmz/Fbn1tm3Rmz mice exhibit aortic aneurysm and lesions, malformed ribs, and thinner intercostal muscles

Show the 2 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:110586
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA targeting vector was designed to replace 700 bp of exon 1, including the ATG codon and the signal peptide coding sequene, with an IRES-hAP-neo cassette. Northern and Western blot confirmed ablation of the locus. (J:110586)
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Fbn1 Mutation:  6 strains or lines available
Phenotypic Similarity to Human Syndrome: bicuspid aortic valve with ascending aortic aneurysm (J:110586)

Original:  J:110586 Carta L, et al., Fibrillins 1 and 2 perform partially overlapping functions during aortic development. J Biol Chem. 2006 Mar 24;281(12):8016-23
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
MGI 6.01
The Jackson Laboratory