Rfwd3^tm1.1Dtch
Targeted Allele Detail

Summary

• Symbol: Rfwd3^tm1.1Dtch
• Name: ring finger and WD repeat domain 3; targeted mutation 1.1, Detlev Schindler
• MGI ID: MGI:6093702
• Gene: Rfwd3 Location: Chr8:111997576-112026854 bp, - strand Genetic Position: Chr8, 57.98 cM
• Alliance: Rfwd3^tm1.1Dtch page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:248005
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A loxP site was inserted upstream of exon 3. An FRT-flanked neomycin resistance cassette with a 3' loxP site was inserted in intron 3. Cre-mediated recombination removed exon 3 and the selection cassette. (J:248005)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Rfwd3 Mutation: 47 strains or lines available

References

• Original: J:248005 Knies K, et al., Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia. J Clin Invest. 2017 Aug 01;127(8):3013-3027
• All: 1 reference(s)