Primary Identifier | MGI:2183158 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 192195 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables histone H3K4 methyltransferase activity and histone H3K9 methyltransferase activity. Acts upstream of or within several processes, including decidualization; tarsal gland development; and uterine gland development. Predicted to be located in Golgi apparatus and nucleus. Predicted to be active in nucleoplasm. Is expressed in cerebral cortex; early conceptus; hindlimb muscle; oocyte; and ureter. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 52. Orthologous to human ASH1L (ASH1 like histone lysine methyltransferase). PHENOTYPE: Homozygotes for a transposon-induced allele are more susceptible to endotoxin shock, sepsis, and autoimmune disease. Homozygotes for a hypomorphic allele show reduced growth and postnatal lethality; surviving adults lack Meibomian glands and show vertebral, reproductive organ, and fertility defects. [provided by MGI curators] |