Fbn1^em1Kkim
Endonuclease-mediated Allele Detail

Summary

• Symbol: Fbn1^em1Kkim
• Name: fibrillin 1; endonuclease-mediated mutation 1, Kenichi Kimura
• MGI ID: MGI:8245561
• Synonyms: Fbn1^G234D
• Gene: Fbn1 Location: Chr2:125142514-125348417 bp, - strand Genetic Position: Chr2, 61.38 cM, cytoband F
• Alliance: Fbn1^em1Kkim page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Other
• Mutation details: CRISPR/Cas9 technology generated a G to A change at position 701 (c.701G>A) resulting in a glycine to aspartate substitution at amino acid 234 (p.G234D) corresponding to a missense variant identified in a patient with nonsyndromic familial aortic dissection. (J:370112)

Disease models

Expression

In Structures Affected by this Mutation:

8 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: 172 strains or lines available

References

• Original: J:370112 Kimura K, et al., Novel Aortic Dissection Model Links Endothelial Dysfunction and Immune Infiltration. Circ Res. 2025 Jun 20;137(1):26-42
• All: 1 reference(s)