Umod^tm2.1Odev

A C to A change at position 556 (c.C556A) resulting in an arginine to serine substitution at amino acid 186 (p.R186S) was introduced in the zona pellucida C domain. An FRT-flanked neomycin resistance cassette was also inserted and was removed via flp-mediated recombination. This corresponds to the R185S mutation identified in individuals with early-onset autosomal dominant tubulointerstitial kidney disease. (J:342964)