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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
