In a murine model, however, transgenic mice with RNF213 knockout [30] or the RNF213 point missense mutation p.Arg4828Lys, which corresponds to the human p.Arg4810Lys variant [31], did not demonstrate the phenotypes mimicking moyamoya disease and other vasculopathies in a normoxic environment. The gene discussed is RNF213; the disease is Moyamoya disease.