| Primary Identifier | MGI:1924933 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 77683 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables C2H2 zinc finger domain binding activity; histone H3K27 methyltransferase activity; and histone H3K9 methyltransferase activity. Involved in several processes, including DNA methylation; negative regulation of macromolecule biosynthetic process; and positive regulation of cold-induced thermogenesis. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including alimentary system; forelimb; integumental system; nervous system; and respiratory system. Used to study Kleefstra syndrome 1. Human ortholog(s) of this gene implicated in Kleefstra syndrome and Kleefstra syndrome 1. Orthologous to human EHMT1 (euchromatic histone lysine methyltransferase 1). PHENOTYPE: Nullizygous embryos die circa E9.5 showing delayed growth and incomplete somite formation and neural groove closure. Heterozygotes show behavioral deficits and synaptic dysfunction. Homozygotes with a H3K9me1-binding mutant form show delayed prenatal growth and bone ossification and postnatal death. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
