| Primary Identifier | MGI:6286052 | Allele Type | Endonuclease-mediated |
| Attribute String | Null/knockout | Gene | Dis3l2 |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology deleted exon 10, mimicking the deletion of the human exon 9, the most common mutation observed in Perlman syndrome patients. This deletion is predicted to preserve the reading frame and remove only 1% of the residues in the catalytic RNB domain. Western blot analysis indicates that protein levels are dramatically reduced in the kidneys at E18.5. |
