Primary Identifier | MGI:2448492 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 216850 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables beta-catenin binding activity; histone H3K27me2/H3K27me3 demethylase activity; and sequence-specific DNA binding activity. Involved in several processes, including cardiac muscle cell differentiation; mesodermal cell differentiation; and positive regulation of cold-induced thermogenesis. Acts upstream of or within cell fate commitment; cellular response to hydrogen peroxide; and positive regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including 1st branchial arch ectoderm; brain; genitourinary system; olfactory epithelium; and palatal shelf. Human ortholog(s) of this gene implicated in Stolerman neurodevelopmental syndrome. Orthologous to human KDM6B (lysine demethylase 6B). PHENOTYPE: Mice homozygous for a null allele show perinatal death, thick alveolar septum, and absence of air space in the lungs. Mice homozygous for a different null allele die neonatally displaying abnormal lung development, dwarfism, kyphosis, short limbs, and a severe delay in endochondral ossification. [provided by MGI curators] |