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CRISPR/cas9 endonuclease-mediated genome editing created a two base pair deletion in exon 5 of the Gtf2i gene. The mutation is located in the Williams syndrome critical region (WSCR) and is tightly linked to Gtf2ird1em2Jdd on Chromosome 5. The 2 bp deletion results in a premature stop codon in exon 5 and causes a nonsense-mediated decay. GTF2I protein expression is reduced by 100% in E13.5 brains from homozygous mice. (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
