Primary Identifier | MGI:700011 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 20408 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable identical protein binding activity. Involved in synaptic vesicle uncoating. Located in cytoplasm. Is expressed in several structures, including adrenal gland; central nervous system; dorsal aorta; peripheral nervous system; and testis. Orthologous to human SH3GL3 (SH3 domain containing GRB2 like 3, endophilin A3). PHENOTYPE: Mice homozygous for a knock-out allele are normal and fertile. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmission and abnormal synaptic vesicle recycling. [provided by MGI curators] |