| 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 9.1.0) Enables several functions, including histone H3 reader activity; lncRNA binding activity; and methyl-CpG 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 several processes, including cellular response to bisphenol A; chromosomal DNA methylation maintenance following DNA replication; and regulation of gene expression. Located in nucleus; pericentric heterochromatin; and replication fork. Is active in heterochromatin. Is expressed in several structures, including alimentary system; blastocyst-stage conceptus; central nervous system; early embryo; and genitourinary system. Human ortholog(s) of this gene implicated in Graves' disease; autosomal dominant cerebellar ataxia, deafness and narcolepsy; hereditary sensory and autonomic 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] |