Fbn1^tm3Rmz
Targeted Allele Detail

Summary

• Symbol: Fbn1^tm3Rmz
• 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: Fbn1^tm3Rmz page

Fbn1^tm3Rmz/Fbn1^tm3Rmz mice exhibit aortic aneurysm and lesions, malformed ribs, and thinner intercostal muscles

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:110586
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

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 Fbn1 Mutation: 173 strains or lines available

References

• 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)