| Primary Identifier | MGI:2143886 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 208266 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables histone methyltransferase activity. Involved in negative regulation of gene expression, epigenetic. Acts upstream of or within with a negative effect on gene expression. Located in cytoplasm and nucleus. Is expressed in several structures, including articular cartilage; early embryo; limb; sensory organ; and yolk sac. Used to study dilated cardiomyopathy 1A. Human ortholog(s) of this gene implicated in Nil-Deshwar neurodevelopmental syndrome and acute biphenotypic leukemia. Orthologous to human DOT1L (DOT1 like histone lysine methyltransferase). PHENOTYPE: Mice homozygous for a gene trap allele show late embryonic lethality. Mice homozygous for a null allele die by E10.5 displaying a growth arrest, abnormal yolk sac angiogenesis and heart dilation while mutant ES cells show elevated apoptosis, G2 cell cycle arrest, telomere elongation and aneuploidy. [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
