| Primary Identifier | MGI:2682319 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 381022 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific and histone H3K4 methyltransferase activity. Involved in heterochromatin formation and oocyte growth. Acts upstream of or within in utero embryonic development and regulation of gene expression. Predicted to be located in nucleoplasm. Predicted to be part of MLL3/4 complex. Is expressed in several structures, including central nervous system; cranium; heart; integumental system; and sensory organ. Used to study Kabuki syndrome. Human ortholog(s) of this gene implicated in Kabuki syndrome; carcinoma (multiple); and intracranial aneurysm. Orthologous to human KMT2D (lysine methyltransferase 2D). PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality around E9.5. Mice homozygous for a conditional allele activated in different cell-types exhibit impaired adipogenesis, impaired myogenesis, perturbed germinal B cell development and promoteion of lymphomagenesis. [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
