Primary Identifier | MGI:97281 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 17967 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable LRR domain binding activity and phosphatase binding activity. Involved in commissural neuron axon guidance; epithelial to mesenchymal transition; and regulation of semaphorin-plexin signaling pathway. Acts upstream of or within several processes, including homotypic cell-cell adhesion; positive regulation of calcium-mediated signaling; and regulation of exocyst assembly. Located in several cellular components, including external side of plasma membrane; growth cone; and neuronal cell body. Is expressed in several structures, including embryo mesenchyme; genitourinary system; nervous system; sensory organ; and skin. Human ortholog(s) of this gene implicated in several diseases, including alcohol dependence; bipolar disorder; drug dependence; middle cerebral artery infarction; and nicotine dependence. Orthologous to human NCAM1 (neural cell adhesion molecule 1). PHENOTYPE: Homozygous mutants show impairment in Morris water maze test, reduced brain and olfactory bulb size, hypoplasic corticospinal tract, abnormally distributed anterior pituitary cell types, and neuromuscular junctions defects. Homozygotes for a null allele exhibit age-dependent retinal abnormalities. [provided by MGI curators] |