Fbn1^em1Chop
Endonuclease-mediated Allele Detail

Summary

• Symbol: Fbn1^em1Chop
• Name: fibrillin 1; endonuclease-mediated mutation 1, Atul R Chopra
• MGI ID: MGI:6303799
• Synonyms: Fpn1^NPS
• Gene: Fbn1 Location: Chr2:125142514-125348417 bp, - strand Genetic Position: Chr2, 61.38 cM, cytoband F
• Alliance: Fbn1^em1Chop page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 genome editing is used to introduce a 10 base pair deletion in the border between exon 65 and intron 65. The mutation results in a frameshift and ablates the coding region. This deletion is analogous to an allele found in a human patient with neonatal progeroid syndrome (NPS). (J:251851)

Expression

In Structures Affected by this Mutation:

3 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:251851 Duerrschmid C, et al., Asprosin is a centrally acting orexigenic hormone. Nat Med. 2017 Dec;23(12):1444-1453
• All: 4 reference(s)