| Primary Identifier | MGI:1861901 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 56527 |
| 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 and cytoskeleton organization. Located in membrane; neuron projection; and neuronal cell body. Is expressed in nervous system; neural retina; and skeletal muscle. Used to study mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations. Human ortholog(s) of this gene implicated in female breast cancer and mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations. Orthologous to human MAST1 (microtubule associated serine/threonine kinase 1). PHENOTYPE: Homozygous null mice show no obvious corpus callosum or cortex defect. Mice homozygous for a L278 microdeletion die neonatally with increased neuron apoptosis while heterozygotes show enlarged corpus callosum and cerebellar hypoplasia with more axons crossing the midline despite cortical apoptosis. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
