| Primary Identifier | MGI:6883575 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Pbx1 |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology introduced a G to C change at position 551 (c.551G>C) resulting in an arginine to proline substitution at amino acid 184 (R184P) in exon 4. The R184P missense variant was identified in an individual of a cohort of congenital heart disease patients, having tetralogy of Fallot with absent pulmonary valve and extra-cardiac phenotypes. |
