Primary Identifier | MGI:1196293 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 51885 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable gamma-tubulin binding activity. Predicted to contribute to microtubule minus-end binding activity. Predicted to be involved in meiotic cell cycle; microtubule cytoskeleton organization; and mitotic cell cycle. Predicted to be located in centrosome and recycling endosome. Predicted to be part of gamma-tubulin complex. Is expressed in several structures, including brain ventricular layer; cerebral cortex; and egg cylinder. Human ortholog(s) of this gene implicated in microcephaly and chorioretinopathy 3. Orthologous to human TUBGCP4 (tubulin gamma complex component 4). PHENOTYPE: Homozygous null mice show complete embryonic lethality by E7.5. In vitro outgrowth assays show that blastocysts fail to hatch from the zona pellucida. Heterozygous mice show photoreceptor degeneration and retinopathy due to disrupted autophagy homeostasis in the retina. [provided by MGI curators] |