Primary Identifier | MGI:2684944 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 225908 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA binding activity and DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in several processes, including central nervous system myelin maintenance; positive regulation of myelination; and regulation of DNA-templated transcription. Located in endoplasmic reticulum membrane and nucleus. Is expressed in pigmented retinal epithelium; spinal cord; and spinal cord marginal layer. Human ortholog(s) of this gene implicated in cerebral infarction; congenital diaphragmatic hernia; hyperopia; nanophthalmos; and primary angle-closure glaucoma. Orthologous to human MYRF (myelin regulatory factor). PHENOTYPE: Mice homozygous for a conditional allele activated in oligodendrocytes exhibit postnatal lethality, ataxia and reduced myelination. Mice homozygous for a conditional allele activated in the eye exhibit retinal degeneration preferentially affecting cones. [provided by MGI curators] |