Fbn1^tm1Lper
Targeted Allele Detail

Summary

• Symbol: Fbn1^tm1Lper
• Name: fibrillin 1; targeted mutation 1, Lygia V Pereira
• MGI ID: MGI:4880665
• Synonyms: Fbn1^{mgdeltaloxPneo}
• Gene: Fbn1 Location: Chr2:125142514-125348417 bp, - strand Genetic Position: Chr2, 61.38 cM, cytoband F
• Alliance: Fbn1^tm1Lper page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:167276
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Dominant negative)
• Mutations: Insertion, Intragenic deletion
• Exons 19 through 24 were replaced with a floxed neo cassette. (J:167276)

Disease models

Expression

In Structures Affected by this Mutation:

9 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

Notes

ES cell line = USP-1

References

• Original: J:167276 Lima BL, et al., A new mouse model for marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression. PLoS One. 2010;5(11):e14136
• All: 12 reference(s)