Chd7, Chromodomain helicase DNA-binding protein 7, is an ATP-dependent eukaryotic chromatin remodeling enzyme. It is crucial for organ development, with its function involving regulation of gene expression through chromatin remodeling. It may be associated with pathways like peroxisome proliferator-activated receptor (PPAR) signaling, and is of great biological importance as its mutation causes CHARGE syndrome [1,3,6]. Mouse models have been valuable in studying its functions [2,5,7].

Conditional knockout of Chd7 in bone marrow mesenchymal stem cells and pre-osteoblasts leads to low bone mass and high marrow adiposity due to enhanced PPAR signaling [1]. In mouse models, Chd7 haploinsufficiency is used to study heart effects in CHARGE syndrome, revealing its role in multiple lineages during heart development [2]. Zebrafish chd7-/-mutants show abnormal craniofacial cartilage development and spinal deformities [4]. In mice, combined haploinsufficiency of Chd7 and Sox2 affects inner ear development, with Chd7 regulating Sox2 expression and key otic patterning genes [5]. Deletion of Chd7 in neural crest cells causes severe conotruncal defects in mice, showing its role in cardiac NCC development [7]. Oocyte-specific deletion of Chd7 in mice leads to infertility or sub-fertility [8].

In conclusion, Chd7 is essential for various developmental processes including bone-fat balance, heart, craniofacial, inner ear, and oocyte development. The Chd7 KO/CKO mouse models and other genetic models have significantly contributed to understanding its role in diseases related to these processes, such as CHARGE syndrome, skeletal and cardiovascular defects, and female infertility [1-2,4-8].