Primary Identifier | MGI:104582 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 13859 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity. Involved in synaptic vesicle endocytosis. Part of clathrin coat of coated pit. Is active in presynapse. Is expressed in several structures, including alimentary system; liver; metanephros; nervous system; and sensory organ. Orthologous to human EPS15L1 (epidermal growth factor receptor pathway substrate 15 like 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial early postnatal lethality, respiration and feeding problems, hyporesponsiveness to tactile stimuli, and decreased synaptic vesicle number; surviving mice show a reduced growth rate, alterations in behavioral tests, and premature death. [provided by MGI curators] |