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CRISPR/cas9 endonuclease-mediated genome editing was created a 589 bp (initially reported as 590 bp) deletion (all of exon 3 with the exception of the first 14 base pairs) in the Gtf2ird1 gene. The mutation is located in the Williams syndrome critical region (WSCR) and is tightly linked to Gtf2iem2Jdd on Chromosome 5. The 589 bp deletion results in a frameshift causing an 80-90% reduction in protein. (J:94077)
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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References Literature
Title
PMID
Journal
Year
IF
