Primary Identifier | MGI:109188 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 16564 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including ATP hydrolysis activity; ankyrin repeat binding activity; and plus-end-directed microtubule motor activity. Predicted to be involved in several processes, including cortical microtubule organization; regulation of axon guidance; and regulation of microtubule polymerization or depolymerization. Predicted to be located in axonal growth cone and cytosol. Predicted to be part of kinesin complex. Predicted to be active in cytoplasm and microtubule. Is expressed in several structures, including alimentary system; central nervous system; eye; immune system; and peripheral nervous system. Used to study congenital fibrosis of the extraocular muscles. Human ortholog(s) of this gene implicated in congenital fibrosis of the extraocular muscles 1. Orthologous to human KIF21A (kinesin family member 21A). PHENOTYPE: Nullizygous mice die neonatally with no apparent oculomotor nerve pathology. Mice harboring a humanized amino acid substitution show uni- or bilateral ptosis, globe retraction, reduced numbers of oculomotor nerve and abducens motor neurons, and altered extraocular muscle morphology and innervation. [provided by MGI curators] |