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Fig. 5 | Human Genomics

Fig. 5

From: GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract

Fig. 5

Phenotypic and gene expression analysis in three point-mutant mice strains in postnatal days. (A) Normal kidneys. (B) Duplex kidney. (C) Hydronephrosis, duplex kidney and megaureter. (D) Hydronephrosis. (E) CAKUT frequency in WT (C57), Gen1 (p.T105R) HE (2/19, 10.52%), Gen1 (p.T105R) HO (1/5, 20%), Gen1 (p.R400X) HE (10/62, 16.13%), Gen1 (p.R400X) HO (3/8, 37.5%), Gen1 (c.1068 + 3 A to G) HE (4/29, 13.8%), and Gen1 (c.1068 + 3 A to G) HO (1/5, 20%) mice. Sample size per group is represented in the image. (F) Gen1 expression in FVB wild-type and point mutant mice of various strains. All analyses of variance were compared to the WT group.* P < 0.05, ** P < 0.01. The results are reported as mean ± SEM for at least three individual experiments. Abbreviations: HE, heterozygous; HO, homozygous; SEM, standard error of the mean; WT, wild type

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