Primary Identifier | MGI:107812 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 22154 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) A structural constituent of cytoskeleton. Involved in regulation of synapse organization. Acts upstream of or within spindle assembly. Located in microtubule and nucleus. Is expressed in several structures, including alimentary system; branchial arch; central nervous system; genitourinary system; and retina. Used to study microcephaly. Human ortholog(s) of this gene implicated in complex cortical dysplasia with other brain malformations 6 and congenital symmetric circumferential skin creases 1. Orthologous to human TUBB (tubulin beta class I). PHENOTYPE: Mice homozygous for a conditional knock-in or knock-out allele exhibit microcephaly due to upper-layer loss, delayed cell cycle progression and apoptosis of neurons. [provided by MGI curators] |