Table 1.
Brain phenotype in Chd7 loss-of-function mutant mouse models.
| Mouse lines | Mouse brain phenotype | Relevant CHARGE phenotype | Reference |
|---|---|---|---|
| Chd7Gt(S20-7E1)/Gt(S20-7E1) (Gene-trap reporter inserted in exon 1) | E10.5 lethal, hypoplasia of the neuroepithelium | Cognitive disability | Hurd et al., 2007 |
| Chd7Gt(S20-7E1)/+ | Small olfactory bulb (OB) | Hyposmia | Layman et al., 2009 |
| Chd7Whi/+ (p.W973X) Chd7Gt(S20-7E1)/+ | OB hypoplasia; decreased GnRH neurons in the hypothalamus | Anosmia; Genital hypoplasia; Puberty delay | Bergman et al., 2010; Layman et al., 2011 |
| Chd7COA1/+ (p.K719X) | Hypoplasia of OB; Telencephalic midline defects; Reduced cerebral cortex | Hyposmia; Cognitive disability | Jiang et al., 2012 |
| Nestin-CreERT2::Chd7 f/f Ubc-CreERT2::Chd7 f/f Glast-CreERT2::Chd7 f/f | Defects of adult neurogenesis | Cognitive disability; Hyposmia | Feng et al., 2013; Micucci et al., 2014; Jones et al., 2015 |
| Chd7Gt(XK403)/+ (Gene-trap reporter inserted in intron 36) Atoh1-Cre::Chd7f/f Nestin-Cre::Chd7f/f | Vermis hypoplasia; Purkinje cell heterotopia | Vermis hypoplasia; Purkinje cell heterotopia | Yu et al., 2013; Feng et al., 2017; Whittaker et al., 2017 |
| Olig1-Cre::Chd7 f/f Pdgfr-CreERT2::Chd7 f/f | Defect of myelination | White matter defects | He et al., 2016 |