absent glomerular endothelium fenestra Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence of the large plasma membrane-lined circular pores that normally perforate the flattened glomerular endothelium; loss of fenestrae may lead to a reduction in the glomerular filtration rate or proteinuria (Mammalian Phenotype Ontology, MP_0011455)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011455
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3 gene mutations causing the absent glomerular endothelium fenestra phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
FOXC2 forkhead box C2
LMX1B LIM homeobox transcription factor 1, beta