Fbn1^tm3.2Lysa
Targeted Allele Detail

Summary

• Symbol: Fbn1^tm3.2Lysa
• Name: fibrillin 1; targeted mutation 3.2, Lynn Y Sakai
• MGI ID: MGI:5313375
• Synonyms: Fbn1^WMdelta
• Gene: Fbn1 Location: Chr2:125142514-125348417 bp, - strand Genetic Position: Chr2, 61.38 cM, cytoband F
• Alliance: Fbn1^tm3.2Lysa page

Thick skin in Fbn1^tm3.2Lysa/Fbn1⁺ and Fbn1^tm3.2Lysa/Fbn1^tm3.2Lysa mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:181493
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

Allele Type: Targeted (Humanized sequence, Null/knockout) Mutations: Insertion, Intragenic deletion Mutation details: Cre-mediated recombination removed the neo cassette and exons 10 and 11. This mutation mimics the one identified in human patients with Weill-Marchesani syndrome (WMS). (J:181493)

Generation of the Fbn1^tm3.1Lysa and Fbn1^tm3.2Lysa alleles

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

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: 173 strains or lines available

References

• Original: J:181493 Sengle G, et al., Microenvironmental regulation by fibrillin-1. PLoS Genet. 2012 Jan;8(1):e1002425
• All: 1 reference(s)