Fbn1^tm2.1Ics
Targeted Allele Detail

Summary

• Symbol: Fbn1^tm2.1Ics
• Name: fibrillin 1; targeted mutation 2.1, Mouse Clinical Institute
• MGI ID: MGI:8280982
• Gene: Fbn1 Location: Chr2:125142514-125348417 bp, - strand Genetic Position: Chr2, 61.38 cM, cytoband F
• Alliance: Fbn1^tm2.1Ics page

Mutation origin

• Mouse Generated: Earliest citation of chimera generation: J:82809
• Parent Cell Line: S3 (ES Cell)
• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, Inserted expressed sequence, No functional change)
• Mutation: Insertion
• Mutation details: A loxP site was inserted into intron 41 and a lox511 site, inverted sequence coding for the last ~200 bp of intron 41, exon 42 (ENSE00003578311.1, coding for the equivalent sequence of mouse exon 42 (ENSMUSE00000325741.2, Fbn1-201, GRCm39)), and the first ~200 bp of intron 42, followed by an inverted loxP site, an FRT site flanked neomycin resistance gene cassette and an inverted lox511 site, were inserted into intron 42. The human exon contains a p.C1720Y (c.5159G>A) mutation. The neo cassette was removed through subsequent Flp-mediated recombination. This allele expresses the wild-type protein and only after Cre-mediated inversion of human exon 42 and deletion of mouse exon 42 will it express the mutant humanized protein. (J:82809)

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: 178 strains or lines available

References

• Original: J:82809 European Mouse Mutant Archive, Information obtained from the European Mouse Mutant Archive (EMMA). Unpublished. 2003-2013
• All: 1 reference(s)