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. 2016 Jun 16;1(9):e86177. doi: 10.1172/jci.insight.86177

Figure 1. Lack of NEPHRIN or NEPH1, but not NEPH2 or NEPH3, causes early lethality and severe nephrotic kidney disease.

Figure 1

(A and B) At E13.5, Nphs1 showed a restricted expression pattern in renal glomeruli, pancreas, and cerebellum anlage. First arrow, cerebellum anlage; second arrow, pancreas; box labeled b is the magnified area shown in B. (C and D) At E13.5, Neph1 was broadly expressed in the central nervous system, lung, kidney, and gut. Box labeled d is the magnified area shown in D. (E–H) Targeting strategy and survival analysis of constitutive Nphs1, Neph1, Neph2, and Neph3 KO mice. Constitutive KO of Nphs1 or Neph1 led to early perinatal lethality, whereas mice deficient in Neph2 or Neph3 did not die prematurely (log rank [Mantel-Cox] test was used with at least 10 animals per genotype; P < 0.01 for Nphs1–/– and P < 0.0001 for Neph1–/–; no difference for Neph2–/– and Neph3–/–). Both Nphs1–/– and Neph1–/– mice presented with massive proteinuria (at least 5 animals per genotype and allele were analyzed for urinary albumin and creatinine; *P < 0.05, **P < 0.01, ***P < 0.001).