Fan1^tm1.1Jrou
Targeted Allele Detail

Summary

• Symbol: Fan1^tm1.1Jrou
• Name: FANCD2/FANCI-associated nuclease 1; targeted mutation 1.1 John Rouse
• MGI ID: MGI:5897147
• Synonyms: Fan1^nd, Fan1 nuclease defective
• Gene: Fan1 Location: Chr7:63996506-64023843 bp, - strand Genetic Position: Chr7, 34.64 cM
• Alliance: Fan1^tm1.1Jrou page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:229449
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 13 of the gene was replaced with a mutated exon where the codon for Lys975 was mutated to encode an alanine. An FRT-flanked puromycin resistance cassette was inserted adjacent to the mutation. Flp-mediated recombination removed the puromycin cassette and left a single FRT site between exon 13 and 14. This allele produces a truncated protein lacking the last 41 amino acids that is devoid of nuclease activity. (J:229449)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Fan1 Mutation: 98 strains or lines available

References

• Original: J:229449 Lachaud C, et al., Ubiquitinated Fancd2 recruits Fan1 to stalled replication forks to prevent genome instability. Science. 2016 Feb 19;351(6275):846-9
• All: 2 reference(s)