Primary Identifier | MGI:98467 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 20977 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables SH2 domain binding activity and identical protein binding activity. Involved in regulation of neuronal synaptic plasticity; regulation of synaptic vesicle priming; and synaptic vesicle endocytosis. Acts upstream of or within cellular response to organic substance. Located in several cellular components, including presynaptic active zone; presynaptic membrane; and synaptic vesicle membrane. Is active in Schaffer collateral - CA1 synapse. Is expressed in several structures, including diaphragm; gut; musculature; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in non-syndromic X-linked intellectual disability 96. Orthologous to human SYP (synaptophysin). PHENOTYPE: Mice homozygous for either one of two independently generated knock-out mutations are viable and fertile and display normal central nervous system morphology and synaptic transmission with no detectable changes in synaptic plasticity or neurotransmitter release. [provided by MGI curators] |