Primary Identifier | MGI:2681836 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 218832 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Enables chromatin binding activity. Predicted to be involved in innate immune response; positive regulation of interferon-beta production; and tRNA transcription by RNA polymerase III. Predicted to be located in cytoplasm and nucleoplasm. Predicted to be part of RNA polymerase III complex. Human ortholog(s) of this gene implicated in Wiedemann-Rautenstrauch syndrome and hypomyelinating leukodystrophy 7. Orthologous to human POLR3A (RNA polymerase III subunit A). PHENOTYPE: Mice homozygous for a knock-out allele are embryonically lethal. Surprisingly, mice homozygous for the G672E hypomyelinating leukodystrophy mutation show no evidence of hypomyelination, cerebellar atrophy, Purkinje cell loss or significant motor dysfunction. [provided by MGI curators] |