Primary Identifier | MGI:108403 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 20018 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA binding activity; DNA-directed 5'-3' RNA polymerase activity; and protein dimerization activity. Predicted to contribute to RNA polymerase I activity and RNA polymerase III activity. Predicted to be involved in transcription by RNA polymerase III and transcription elongation by RNA polymerase I. Part of RNA polymerase I complex. Is expressed in several structures, including alimentary system; early conceptus; genitourinary system; liver; and nervous system. Human ortholog(s) of this gene implicated in Treacher Collins syndrome 2. Orthologous to human POLR1D (RNA polymerase I and III subunit D). PHENOTYPE: Mice homozygous for a knock-out allele show complete embryonic lethality before implantation associated with embryonic growth retardation, impaired trophectoderm specification, failure of blastocyst formation, and increased cell death. [provided by MGI curators] |