| Primary Identifier | MGI:6429889 | Allele Type | Endonuclease-mediated |
| Attribute String | Null/knockout | Gene | Gtf2i |
| Strain of Origin | FVB/N | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | 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. |
