Primary Identifier | MGI:94912 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 13433 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA (cytosine-5-)-methyltransferase activity; nucleic acid binding activity; and zinc ion binding activity. Involved in DNA methylation-dependent constitutive heterochromatin formation and negative regulation of gene expression via chromosomal CpG island methylation. Acts upstream of or within with a positive effect on epigenetic programming of gene expression. Acts upstream of or within several processes, including cellular response to bisphenol A; chromosomal DNA methylation maintenance following DNA replication; and negative regulation of macromolecule biosynthetic process. Located in female germ cell nucleus; pericentric heterochromatin; and replication fork. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in Graves' disease; autosomal dominant cerebellar ataxia, deafness and narcolepsy; hereditary sensory neuropathy; hereditary sensory neuropathy type 1E; and lung non-small cell carcinoma. Orthologous to human DNMT1 (DNA methyltransferase 1). PHENOTYPE: Mutations causing partial or severe loss of function were homozygous lethal by embryonic day 9.5, with lack of appropriate genomic imprinting observed at several loci. Heterozygosity for specific mutations in the RFTS domain of the encoded peptide affects learning, memory and behavior. [provided by MGI curators] |