In humans, nephropathy-causing reduced ion transport capacity of the NKCC2 dimers occurs if both alleles are mutated [2], and the recessive character of Slc12a1 mutations to cause renal disease has been shown in knockout mice [23] as well as in our previous publication of line Slc12a1I299F[22]. The gene discussed is SLC12A1; the disease is Nephropathy.