Ddx41^tm1.1Ndmo
Targeted Allele Detail

Summary

• Symbol: Ddx41^tm1.1Ndmo
• Name: DEAD box helicase 41; targeted mutation 1.1, Akiko Nagamachi
• MGI ID: MGI:7469591
• Synonyms: Ddx41^R525H, Ddx41^{tm1(R525H)Ndmo}
• Gene: Ddx41 Location: Chr13:55678223-55684471 bp, - strand Genetic Position: Chr13, 30.06 cM
• Alliance: Ddx41^tm1.1Ndmo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:342740
• Parent Cell Line: KY1.1 (ES Cell)
• Strain of Origin: (C57BL/6J x 129S6/SvEvTac)F1

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, Hypomorph, No functional change)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Genomic sequence for exons 11-17 and intervening introns was replaced with the following: a loxP site, cDNA sequence for exons 11-17, SV40 poly(A) signal sequences, a second loxP site, cDNA sequence for exons 11-17 where arginine codon 525 (CGT) in exon 15 was changed to histidine (CAT) (p.R525H), SV40 poly(A) signal sequences, and an FRT site flanked neomycin resistance gene cassette. The neo cassette was removed through subsequent Flp-mediated recombination. The allele expresses the wildtype peptide and only after Cre-mediated deletion of the wildtype exons 11-17 sequence will it express the mutated peptide. The mutation, in the helicase domain of the encoded peptide, affects splicing and transcriptional elongation. (J:342740)

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 Ddx41 Mutation: 46 strains or lines available

References

• Original: J:342740 Shinriki S, et al., DDX41 coordinates RNA splicing and transcriptional elongation to prevent DNA replication stress in hematopoietic cells. Leukemia. 2022 Nov;36(11):2605-2620
• All: 1 reference(s)