Fbn1^tm1Hcd
Targeted Allele Detail

Summary

• Symbol: Fbn1^tm1Hcd
• Name: fibrillin 1; targeted mutation 1, Harry C Dietz
• MGI ID: MGI:3690325
• Synonyms: Fbn1^C1037G, Fbn1^C1039G, Fbn1^C1041G
• Gene: Fbn1 Location: Chr2:125142514-125348417 bp, - strand Genetic Position: Chr2, 61.38 cM, cytoband F
• Alliance: Fbn1^tm1Hcd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:91349
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Site-directed mutagenesis creates a single T to G base pair alteration in the mouse gene resulting in a Cys to Gly change at amino acid 1041 (previously identified in the literature as C1039G and C1037G). This corresponds with the human C1039Y mutation. The floxed neo selection cassette was removed by crossing to a ubiquitously expressing Cre mouse line. (J:91349)

Disease models

Expression

In Mice Carrying this Mutation:	4 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	11 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:91349 Judge DP, et al., Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest. 2004 Jul;114(2):172-81
• All: 95 reference(s)