Ddx3x^em1Lutzy
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ddx3x^em1Lutzy
• Name: DEAD box helicase 3, X-linked; endonuclease-mediated mutation 1, Cathy Lutz
• MGI ID: MGI:6798132
• Synonyms: Ddx3x^R488H
• Gene: Ddx3x Location: ChrX:13147261-13160222 bp, + strand Genetic Position: ChrX, 8.17 cM
• Alliance: Ddx3x^em1Lutzy page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Conditional ready, Humanized sequence)
• Mutation: Insertion
• Mutation details: CRISPR/cas9 genome editing is used to insert the following: loxP- exon 13-17 Ddx3x cDNA fragment- a bGH poly(A) transcription termination signal-loxP-a small region of intron 12-an intact exon 13 containing the R488H (arginine to histidine; CGC to CAC) missense mutation with an additional 2kb of mouse genomic DNA proximal to this construct and 1.6kb distal to the construct. The human R488H mutation is associated with intellectual development disorder, X-linked, syndromic, Snijers Blok type. (J:101977)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ddx3x Mutation: 6 strains or lines available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 1 reference(s)