Primary Identifier | MGI:1915769 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 68519 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables microtubule binding activity. Involved in brain development; mitotic spindle organization; and neuroblast proliferation. Acts upstream of or within hematopoietic progenitor cell differentiation. Located in cytosol. Colocalizes with mitotic spindle midzone and mitotic spindle pole. Is expressed in liver; lung; nervous system; and retina. Used to study congenital nervous system abnormality and subcortical band heterotopia. Human ortholog(s) of this gene implicated in subcortical band heterotopia. Orthologous to human EML1 (EMAP like 1). PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit subcortical band heterotopia associated with seizures, developmental delay and behavioral deficits. [provided by MGI curators] |