Fan1^{tm1d(KOMP)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Fan1^{tm1d(KOMP)Wtsi}
• Name: FANCD2/FANCI-associated nuclease 1; targeted mutation 1d, Wellcome Trust Sanger Institute
• MGI ID: MGI:5796264
• Synonyms: Fan1deltaex3&4
• Gene: Fan1 Location: Chr7:63996506-64023843 bp, - strand Genetic Position: Chr7, 34.64 cM
• Alliance: Fan1^{tm1d(KOMP)Wtsi} page
• IMPC: Fan1 gene page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:232402
• Parent Cell Line: JM8A3.N1 (ES Cell)
• Strain of Origin: C57BL/6N-A^tm1Brd
• Project Collection: KOMP-CSD

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: The L1L2_Bact_P cassette was inserted at position 64018509 of Chromosome 7 upstream of the critical exon 3 (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of the targeted exon 4 at position 64021818. The critical exons 3 an 4 is/are thus flanked by loxP sites. Flp recombinase expression followed by subsequent cre expression resulted in a knockout allele in which the lacZ sequence, neomycin selecton cassette and exons 3 and 4 are deleted. (J:232402)

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:232402 Thongthip S, et al., Fan1 deficiency results in DNA interstrand cross-link repair defects, enhanced tissue karyomegaly, and organ dysfunction. Genes Dev. 2016 Mar 15;30(6):645-59
• All: 1 reference(s)