Version: 8.0.0
Date: Tue Jan 28 2025
Ddx3xem1Lutzy
MGI:6798132
Allele of Ddx3x
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Ddx3xem1Lutzy

Species
Mus musculus
Symbol
Ddx3xem1Lutzy
Category
allele
Allele of gene
Ddx3x
Transgenic Constructs
None
Synonyms
  • Ddx3xR488H
Description
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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
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