Primary Identifier | MGI:2448567 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 244059 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and histone binding activity. Involved in gene expression and muscle organ development. Acts upstream of or within DNA damage response and hematopoietic stem cell differentiation. Located in nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Used to study CHARGE syndrome. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 94. Orthologous to human CHD2 (chromodomain helicase DNA binding protein 2). PHENOTYPE: Mice homozygous for a gene trap allele exhibit early postnatal lethality associated with fetal growth retardation. Mice heterozygous for a gene trap allele exhibit postnatal lethality and premature death after weaning associated with growth retardation and multi-organ defects. [provided by MGI curators] |