Primary Identifier | MGI:101834 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 103733 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable GTP binding activity and identical protein binding activity. Predicted to be a structural constituent of cytoskeleton. Involved in meiotic spindle organization. Located in several cellular components, including condensed nuclear chromosome; microtubule cytoskeleton; and non-motile cilium. Is expressed in several structures, including central nervous system; eye; head mesenchyme; heart; and male reproductive gland or organ. Used to study complex cortical dysplasia with other brain malformations 4. Human ortholog(s) of this gene implicated in complex cortical dysplasia with other brain malformations 4; inclusion body myositis; and muscular disease. Orthologous to human TUBG1 (tubulin gamma 1). PHENOTYPE: Homozygous null mice display embryonic lethality and growth arrest at the blastocyst stage. Heterozygosity for the p.Y92C mutation affects cerebral cortex and hippocampus development and leads to increased locomotor activity, impaired fear conditioning behavior and increased sensitivity to chemically induced seizures. [provided by MGI curators] |