Primary Identifier | MGI:1916577 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 69327 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Involved in axoneme assembly; cilium movement; and establishment of left/right asymmetry. Acts upstream of or within DNA damage response; cellular response to UV-C; and regulation of gene expression. Located in cytoplasm and nucleus. Is active in axonemal A tubule inner sheath. Is expressed in brain; genitourinary system; lung; node; and retina. Orthologous to human PIERCE1 (piercer of microtubule wall 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe laterality defects, including situs inversus totalis and heterotaxy with randomized situs and left and right isomerisms. Homozygous embryos with isomerisms die in utero due to associated cardiovascular malformations. [provided by MGI curators] |