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Breasi-CRISPR Ccnd2 Thr280Ala mutation E13.5-E15.5 embryonic mouse cortex with CRISPR silent controls

ABSTRACT: Breasi-CRISPR Ccnd2 Thr280Ala mutation E13.5-E15.5 embryonic mouse cortex with CRISPR silent controls

PROVIDER: PRJNA1289856 | ENA |

REPOSITORIES: ENA

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Breasi-CRISPR Ccnd2 Thr280Ala mutation E13.5-E15.5 embryonic mouse cortex

Project description:Breasi-CRISPR Ccnd2 Thr280Ala mutation E13.5-E15.5 embryonic mouse cortex

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Breasi-CRISPR Ccnd2 Thr280Ala mutation E13.5-E15.5 embryonic mouse cortex with CRISPR silent controls

Project description:The increasing availability and affordability of genetic testing has resulted in the identification of numerous novel variants associated with neurodevelopmental disorders. There remains a need for methods to analyze the functional impact of these variants. Some methods, like expressing these variants in cell culture, may be rapid, but lack physiologic context. Other methods, like making a whole mouse model may provide physiologic accuracy, but are costly and time consuming. We recently developed a technique, Breasi-CRISPR, which results in efficient genome editing of neural precursor cells via electroporation of CRISPR-CAS9 reagents into developing mouse brains. Since Breasi-CRISPR is extremely rapid, and enables the analysis of targeted genes in vivo, we wondered if this technique would accelerate the study of monogenic neurodevelopmental disorders. Here, we use Breasi-CRISPR to model megalencephaly postaxial polydactyly polymicrogyria hydrocephalus (MPPH) syndrome. We found that two days after Breasi-CRISPR, we were able to see neurodevelopmental phenotypes known to be associated with MPPH syndrome including increased cyclin D2 protein abundance and an increase in neural progenitor proliferation. Thus, Breasi-CRISPR can efficiently model MPPH syndrome, and may be a powerful method to add to the toolbox of those investigating the functional impact of patient variants in neurodevelopmental disorders.

2025-07-10 | GSE302315 | GEO

Breasi-CRISPR Ccnd2 Thr280Ala mutation E13.5-E15.5 embryonic mouse cortex

Project description:Here we demonstrate the ability to model patient variants associated with two different NDDs in vivo using Breasi-CRISPR. We first model periventricular nodular heterotopia (PVNH), a neuronal migration disorder (Heinzen et al., 2018; Walters et al., 2018). We use Breasi-CRISPR to insert two patient analogous protein truncating variants in MAP1B, resulting in a significant defect in migration. We were able to validate that MAP1B fragments are being produced from these protein truncating variants, but the fragments do not act as a dominant negative. Next, we modeled a patient variant in CCND2 (encoding the protein cyclin D2) associated with megalencephaly postaxial polydactyly polymicrogyria hydrocephalus (MPPH) syndrome (Mirzaa et al., 2014). The unifying pathogenic mechanism underlying MPPH syndrome is believed to be excessive cyclin D2, a cell cycle regulator known to promote cell cycle progression. Modeling the repeated variant Thr280Ala caused an increase in the number of cells in S phase, an increase in progenitor numbers, an accumulation of cyclin D2 protein, and a tangential expansion of the cortex. We wondered if Breasi-CRISPR would be efficient enough to notice transcriptomic changes via bulk RNA sequencing of the targeted area. Indeed, we found that introduction of the MPPH syndrome variant caused an upregulation of genes and pathways important in tissue growth and a downregulation of those important in cell differentiation. Taken together we demonstrate that Breasi-CRISPR is efficient enough to model patient analogous variants, mirroring patient phenotypes and enabling investigation of NDDs.

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