| Primary Identifier | MGI:6162681 | Allele Type | Endonuclease-mediated |
| Attribute String | Dominant negative | Gene | Umod |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology generated at T to G point mutation resulting in a cysteine to tryptophan amino acid change at position 147 (C147W). Three additional silent mutations were found. Levels of UMOD in whole-kidney tissue are elevated and accumulate at a smaller, nonglycosylated pre-Golgi apparatus stage while urinary UMOD is reduced, consistent with a dominant negative function of the mutant protein. |
