Mutations in CHD7, which cause CHARGE syndrome, cause a reduction in FGF8 signalling and subsequent abnormalities in the cerebellar vermis in both mice and humans.

The mesenchyme surrounding the developing brain plays a significant role in controlling the fundamental growth and patterning of the cerebellum, and misregulation of this signalling can lead to important neurodevelopmental disorders.

Building on previous work (Haldipur et al., 2014), we show that many key mechanisms controlling cerebellar development are likely conserved between mouse and human, and validate our mouse model of Dandy-Walker malformation.

Mirroring human patients with ARID1B mutations, Arid1b haploinsufficient mice exhibited numerous neuropsychiatric defects and revealed IGF1 deficiency related growth impairment that could be ameliorated with growth hormone supplementation.

Single-cell RNA sequencing resolves inter- and intra-population heterogeneity, identifies rare cell types, and reconstructs specification trajectories during early neurogenesis of the mouse cerebellum.

An analysis of enhancer activity during mouse cerebellar development provides an invaluable resource for studying gene expression regulation by enhancers in the developing cerebellum and delivers a rich dataset of novel gene-enhancer associations providing a basis for future in-depth studies.