Fbn1^tm1.1Ics
Targeted Allele Detail

Summary

• Symbol: Fbn1^tm1.1Ics
• Name: fibrillin 1; targeted mutation 1.1, Mouse Clinical Institute
• MGI ID: MGI:8280978
• Synonyms: Fbn1^Y1698C
• Gene: Fbn1 Location: Chr2:125142514-125348417 bp, - strand Genetic Position: Chr2, 61.38 cM, cytoband F
• Alliance: Fbn1^tm1.1Ics page

Mutation origin

• Mouse Generated: Earliest citation of chimera generation: J:378334
• Parent Cell Line: BD10 (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Tyrosine codon 1698 (TAC) in exon 42 (ENSMUSE00000325741) was changed to cysteine (TGC) (c.5093A>G p.Y1698C) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 42. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation, in the TB5 domain of the encoded protein, is the equivalent of the human p.Y1698C mutation associated with autosomal dominant geleophysic dysplasia (GD). (J:378334)

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:378334 Delhon L, et al., The critical role of the TB5 domain of fibrillin-1 in endochondral ossification. Hum Mol Genet. 2022 Nov 10;31(22):3777-3788
• All: 1 reference(s)