Ddx3x^tm1.1Dlsi
Targeted Allele Detail

Summary

• Symbol: Ddx3x^tm1.1Dlsi
• Name: DEAD box helicase 3, X-linked; targeted mutation 1.1, Debra L Silver
• MGI ID: MGI:8270660
• Synonyms: Ddx3x^{T532M lox}
• Gene: Ddx3x Location: ChrX:13147261-13160222 bp, + strand Genetic Position: ChrX, 8.17 cM
• Alliance: Ddx3x^tm1.1Dlsi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:376178
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129 x C57BL/6N

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, No functional change)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A loxP site, a mini-gene consisting of cDNA coding for exons 12-17 plus bovine GH poly(A) signal sequences, an FRT site flanked neomycin resistance gene cassette, and a second loxP site were inserted into intron 11. In endogenous exon 14 threonine codon 532 (ACA) was changed to methionine (ATG) (p.T532M). The mutation is the equivalent of the same human mutation associated with the DDX3X syndrome neurodevelopmental disorder. The neo cassette was removed through subsequent Cre-mediated recombination. This allele expresses the wild-type protein and only after Cre-mediated deletion of the mini-gene will it express the mutated protein. (J:376178)

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 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 Ddx3x Mutation: 11 strains or lines available

References

• Original: J:376178 Poff AJ, et al., Impaired cortical development and translational control in a missense mouse model of DDX3X syndrome. Dis Model Mech. 2025 Nov 1;18(11)
• All: 1 reference(s)