Primary Identifier | MGI:109565 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 75410 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables histone H3K4 methyltransferase activity. Acts upstream of or within several processes, including ovarian follicle development; ovulation; and regulation of gene expression. Predicted to be located in nucleus. Predicted to be part of MLL1/2 complex. Is expressed in several structures, including alimentary system; inner cell mass; nervous system; sensory organ; and urinary system. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder; colorectal adenocarcinoma; dystonia 28, childhood-onset; and hepatocellular carcinoma. Orthologous to human KMT2B (lysine methyltransferase 2B). PHENOTYPE: Homozygous disruption of this gene leads to embryonic growth retardation, abnormal somite development, neural tube defects, increased apoptosis, and complete embryonic lethality. Homozygotes for a hypomorphic allele show embryonic growth arrest, altered DNA methylation, and reduced female fertility. [provided by MGI curators] |