Primary Identifier | MGI:1921569 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 74319 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables histone H3R17 methyltransferase activity. Involved in epigenetic programming in the zygotic pronuclei. Acts upstream of with a positive effect on epigenetic programing of male pronucleus. Located in cytoplasm and female pronucleus. Is active in male pronucleus. Is expressed in embryo. Used to study glaucoma. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 44. Orthologous to human METTL23 (methyltransferase 23, arginine). PHENOTYPE: Mice homozygous for a null allele exhibit normal-tension glaucoma with loss of retinal ganglion cells and optic nerve atrophy. Mice homozygous for a different null allele show partial postnatal lethality, low survivor rate, decreased litter size, and abnormal active DNA demethylation of the paternal genome. [provided by MGI curators] |