Project Grant R21NS152673

The National Institute of Neurological Disorders and Stroke awarded Seattle Children's Hospital $516,175 on September 1, 2026, under the Extramural Research Programs in the Neurosciences and Neurological Disorders program (CFDA 93.853) to investigate the role of MN1 in central nervous system developmental malformations.

The research compares MN1 null and C-terminal truncation mutant mice to characterize cerebellar and cerebral cortex phenotypes associated with MN1 C-terminal truncation syndrome, a recently defined intellectual and developmental disability characterized by craniofacial dysmorphology, epilepsy, polymicrogyria, and rhombencephalosynapsis. The project uses light sheet microscopy, immunohistochemistry, and in situ analyses to define post-natal and developing cerebral cortex and cerebellar phenotypes and to elucidate the dysregulated developmental programs leading to brain malformation in null and MCTT-allele MN1 mutants. The work addresses knowledge gaps in neurodevelopmental pathogenesis; current mouse models lack rhombencephalosynapsis phenotypes, and cerebellar and cerebral cortex phenotypes have not been assessed in existing MN1 models.

The award is a Project Grant, a form of assistance funding, with performance in Seattle, Washington. The period of performance runs from September 1, 2026, through August 31, 2028. Seattle Children's Hospital performs the work through its research division, Seattle Children's Research Institute.