Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Fbn1tm3Rmz Name: fibrillin 1; targeted mutation 3, Francesco Ramirez MGI ID: MGI:3641232 Synonyms: Fbn1-, mgN Gene: Fbn1  Location: Chr2:125142514-125348417 bp, - strand  Genetic Position: Chr2, 61.38 cM, cytoband F Alliance: Fbn1tm3Rmz page

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 details: A 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 and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

10 anatomical structure(s)

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 Fbn1 Mutation:	171 strains or lines available

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:	10 reference(s)