Gtf2i (general transcription factor II I) and Gtf2ird1 (general transcription factor II I repeat domain-containing 1) are two tightly linked genes on mouse Chromosome 5 (human Chromosome 7) that are associated with the telomeric end of the 28 gene Williams syndrome critical region (WSCR). Both genes encode proteins that function as regulators of transcription. Mutations in these genes are associated with the some of the physical, cognitive and behavioural phenotypes found in Williams-Beuren syndrome (a deletion of the WSCR).&nbsp; Gtf2i and Gtf2ird1 double knock-out (KO) mice carry CRISPR-mediated deletions: 2 bp in exon 5 of Gtf2i and 590 bp in exon 3 of Gtf2ird1 that result in the absence of GTF2I protein and in a non-functional N-terminal truncation of GTF2IRD1 protein. The strain is maintained on a "sighted" FVB/N background. The double KO is embryonic lethal; embryos are detectable up to E15.5.&nbsp; Mice heterozygous for Gtf2ird1 and Gtf2i exhibit a moderate alteration in skull morphology. This strain may be useful for studying Williams-Beuren syndrome.

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Gtf2i (general transcription factor II I) and Gtf2ird1 (general transcription factor II I repeat domain-containing 1) double knock-out mice carry CRISPR/Cas9-mediated deletions in exons 3 and 5 (respectively). Mice homozygous for Gtf2ird1 and heterozygous for Gtf2i mice exhibit altered skull morphology. This strain may be useful for studying Williams-Beuren syndrome, a developmental disorder characterized by the deletion of the 28 genes of the Williams syndrome critical region.

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