| 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 8.0.0) Involved in axoneme assembly; establishment of left/right asymmetry; and flagellated sperm motility. 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 and sperm flagellum. 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] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
