| Primary Identifier | MGI:6429891 | Allele Type | Endonuclease-mediated |
| Attribute String | Hypomorph | Gene | Gtf2ird1 |
| Strain of Origin | FVB/N | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | 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. |
