Fbn1^tm3.1Hcd
Targeted Allele Detail

Summary

• Symbol: Fbn1^tm3.1Hcd
• Name: fibrillin 1; targeted mutation 3.1, Harry C Dietz
• MGI ID: MGI:5558868
• Synonyms: Fbn1^W1572C
• Gene: Fbn1 Location: Chr2:125142514-125348417 bp, - strand Genetic Position: Chr2, 61.38 cM, cytoband F
• Alliance: Fbn1^tm3.1Hcd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:206074
• 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, Nucleotide substitutions
• Mutation details: Exon 38 was replaced with a floxed neomycin resistance cassette and a modified exon 38 in which nucleotide substitutions result in the amino acid substitution of cysteine for tryptophan at position 1572 (W1572C). This mutation is associated with stiff skin syndrome (SSS) in human patients. Cre-mediated recombination removed the selection cassette. (J:206074)

Disease models

Expression

In Structures Affected by this Mutation:

2 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: 171 strains or lines available

References

• Original: J:206074 Gerber EE, et al., Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma. Nature. 2013 Nov 7;503(7474):126-30
• All: 1 reference(s)