Primary Identifier | MGI:1858896 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 50850 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATP hydrolysis activity; microtubule severing ATPase activity; and tubulin binding activity. Involved in anterograde axonal transport and axonal transport of mitochondrion. Acts upstream of or within microtubule severing. Located in microtubule cytoskeleton and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study hereditary spastic paraplegia 4. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 4. Orthologous to human SPAST (spastin). PHENOTYPE: Homozygous inactivation of this gene results in sterility and progressive axonopathy with focal axonal swellings and late onset gait abnormalities. Mice homozygous for a knock-out allele exhibit male sterility, decreased testis weight, azoospermia, defects in male meiosis, acrosome formation and manchette structure, and loss of spermatid nuclear integrity. [provided by MGI curators] |