GEN1 and congenital anomaly of kidney and urinary tract: To further explore the CAKUT pathogenicity of the GEN1 mutant locus in patients, we constructed three strains of point-mutant mice, GEN1 (p.T105R), GEN1 (p.R401X,508), and GEN1 (c.1071 + 3 A > G), based on the frequency of variants in the CAKUT group and the effects of the function of GEN1 protein in the in vitro experiments described above.