Primary Identifier | MGI:1920960 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 73710 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTP binding activity and protein heterodimerization activity. Predicted to be a structural constituent of cytoskeleton. Involved in cerebral cortex development and modulation of chemical synaptic transmission. Acts upstream of or within embryonic brain development. Is active in Schaffer collateral - CA1 synapse. Is expressed in several structures, including brain; gut; hemolymphoid system gland; male reproductive gland or organ; and sensory organ. Used to study complex cortical dysplasia with other brain malformations 7. Human ortholog(s) of this gene implicated in complex cortical dysplasia with other brain malformations 7. Orthologous to human TUBB2B (tubulin beta 2B class IIb). PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit mild hydroencephaly, telencephalon dysmorphology, a small olfactory bulb and prenatal lethality. Mice heterozygous for this mutation exhibit hyperactivity, reduced fertility and abnormal cortex. [provided by MGI curators] |