Umod^em1Duf

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. (J:252597)