| Primary Identifier | MGI:1096397 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 20019 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable several functions, including DNA-directed 5'-3' RNA polymerase activity; DNA/RNA hybrid binding activity; and metal ion binding activity. Predicted to contribute to RNA polymerase I activity. Predicted to be involved in negative regulation of protein localization to nucleolus and rRNA transcription. Located in chromosome and nucleus. Part of RNA polymerase I complex. Is expressed in several structures, including alimentary system; brain; early conceptus; genitourinary system; and integumental system. Human ortholog(s) of this gene implicated in acrofacial dysostosis Cincinnati type and hypomyelinating leukodystrophy. Orthologous to human POLR1A (RNA polymerase I subunit A). PHENOTYPE: Mice homozygous for a knock-out allele exhibit failure of zygotic cell division, increased cell death, and complete embryonic lethality before implantation. Conditional KO in pre-migratory neural crest cells (NCCs) leads to craniofacial and cardiovascular abnormalities and is embryonic lethal. Conditional KO in migratory NCCs leads to craniofacial defects and is embryonic lethal. Conditional forebrain KO leads to telencephalon hypoplasia. Conditional cardiac KO leads to cardiovascular abnormalities. [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
