Primary Identifier | MGI:1333763 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 13854 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including clathrin adaptor activity; clathrin binding activity; and transmembrane transporter binding activity. Acts upstream of or within several processes, including Notch signaling pathway; female pregnancy; and in utero embryonic development. Predicted to be located in cytosol; postsynaptic membrane; and presynaptic membrane. Predicted to be part of clathrin vesicle coat. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; endosome; and postsynapse. Is expressed in embryo. Orthologous to human EPN1 (epsin 1). 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] |