Primary Identifier | MGI:2444959 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 231051 |
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 eyelid development in camera-type eye; positive regulation of fibroblast proliferation; and single fertilization. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of MLL3/4 complex. Is expressed in several structures, including eye; genitourinary system; limb; nervous system; and neural ectoderm. Human ortholog(s) of this gene implicated in Kleefstra syndrome 2; carcinoma (multiple); and stomach cancer. Orthologous to human KMT2C (lysine methyltransferase 2C). PHENOTYPE: Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts. [provided by MGI curators] |