Umod^tm1.1Odev

A G to A change at position 512 (c.G512A) resulting in a cysteine to tyrosine substitution at amino acid 171 (p.C171Y) was introduced in the cysteine-rich domain. An FRT-flanked neomycin resistance cassette was also inserted and was removed via flp-mediated recombination. This corresponds to the C170Y mutation identified in individuals with late-onset autosomal dominant tubulointerstitial kidney disease. (J:342964)