Primary Identifier | MGI:2142166 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 277939 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in centriole elongation. Acts upstream of or within several processes, including chordate embryonic development; embryonic morphogenesis; and protein localization to centrosome. Located in centriolar satellite; centriole; and ciliary basal body. Is expressed in several structures, including alimentary system mesenchyme; brain; face; oral epithelium; and perichondrium. Human ortholog(s) of this gene implicated in orofaciodigital syndrome XIV. Orthologous to human C2CD3 (C2 domain containing 3 centriole elongation regulator). PHENOTYPE: Homozygotes inactivating allele are embryonic lethal with pericardial edema and twisted body axis, abnormal patterning of brain and open neural tube defect. [provided by MGI curators] |