Primary Identifier | MGI:1333766 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 13855 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable clathrin binding activity and phospholipid binding activity. Acts upstream of or within Notch signaling pathway; embryonic organ development; and in utero embryonic development. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be part of clathrin coat of endocytic vesicle. Predicted to be active in endosome and plasma membrane. Is expressed in cerebral cortex ventricular layer and cortical plate. Orthologous to human EPN2 (epsin 2). PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no gross abnormalities. Mice homozygous null for both Epn1 and Epn2 display defects in angiogenic vascular remodeling, impaired somitogenesis and extensive cell death in the nervous tissue, resulting in lethality during organogenesis. [provided by MGI curators] |