Primary Identifier | MGI:94941 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 13542 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables beta-catenin binding activity and protein kinase binding activity. Involved in several processes, including heart morphogenesis; protein stabilization; and synapse organization. Acts upstream of with a positive effect on synaptic vesicle exocytosis. Acts upstream of or within several processes, including embryonic morphogenesis; neuron projection morphogenesis; and regulation of protein phosphorylation. Located in several cellular components, including axon; clathrin-coated vesicle; and microtubule cytoskeleton. Part of Wnt signalosome. Is active in several cellular components, including Schaffer collateral - CA1 synapse; neuronal dense core vesicle; and postsynaptic density. Colocalizes with cytoplasm. Is expressed in several structures, including central nervous system; early conceptus; eye; genitourinary system; and skin. Human ortholog(s) of this gene implicated in DiGeorge syndrome and autosomal dominant Robinow syndrome 2. Orthologous to several human genes including DVL1 (dishevelled segment polarity protein 1). PHENOTYPE: Homozygous targeted mutants are viable and fertile, but show a number of behavioral changes including deficient nest-building, less huddling contact during sleep, reduced subordinate responses, and other social interaction deficits. [provided by MGI curators] |