| 54631 | Q9QZS7 | NPHN_MOUSE | Nephrin (Renal glomerulus-specific cell adhesion receptor) | DISRUPTION PHENOTYPE | Death by postnatal day 2 associated with proteinuria, edema and massive glomerular vascular leak. Kidneys display enlarged Bowman's spaces, dilated tubuli, effacement of podocyte foot processes and an absence of the glomerular epithelial slit diaphragm. Impaired skeletal muscle development characterized by incomplete myoblast fusion. {ECO:0000269|PubMed:11136707, ECO:0000269|PubMed:12039968, ECO:0000269|PubMed:19470472}. |