Fancl^em1Anjde
Endonuclease-mediated Allele Detail

Summary

• Symbol: Fancl^em1Anjde
• Name: Fanconi anemia, complementation group L; endonuclease-mediated mutation 1, Andrew J Deans
• MGI ID: MGI:8317295
• Synonyms: Fancl^TATdelta
• Gene: Fancl Location: Chr11:26337084-26421883 bp, + strand Genetic Position: Chr11, 15.85 cM, cytoband A2-A3
• Alliance: Fancl^em1Anjde page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Intragenic deletion
• Mutation details: Three nucleotides (TAT), straddling codons isoleucine 336 (ATA) and cysteine 337 (TGT), were deleted (c.1007-1009delTAT, p.I336_C337delinsS) using two sgRNAs and an ssODN template with CRISPR/Cas9 technology. The mutation, in the RING domain of the encoded protein, is the equivalent of the same human mutation associated with Fanconi anemia (FA). (J:379197)

Disease models

Expression

In Structures Affected by this Mutation:

11 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 Fancl Mutation: 28 strains or lines available

References

• Original: J:379197 Liu L, et al., Fancl-mutant mice reveal central role of monoubiquitination in Fanconi anemia and a model for therapeutic gene editing. Blood Adv. 2026 Feb 10;10(3):821-836
• All: 1 reference(s)