Restriction of p.Arg1872Trp expression to excitatory neurons using Emx1-Cre recapitulated seizures and juvenile lethality between 1 and 2 months of age.
Histological analysis showed that the Emx1-Lgl1<sup>-/-</sup> mice exhibited reduced size of the hippocampus with severe malformations of hippocampal cytoarchitecture.
To determine whether the cortical neuronal populations expressing the Emx-1 promoter are involved in SMA pathology, we generated a novel SMA mouse model in which SMN expression was specifically induced in Emx-1 expressing cortical neurons utilizing an Emx-1-Cre transgene.
Surprisingly, delivery of fukutin or Large into the brains of mice at E12.5 prevented severe brain malformation in Emx1-fukutin-cKO and Largemyd/myd mice, respectively.
Here, by crossing <i>Emx1-cre</i> mice with <i>Brpf1<sup>fl/fl</sup></i> mice, we generated <i>Brpf1</i> heterozygous mice to model <i>BRPF1</i>-related ID.
Both low expression of miR-497 and overexpression of EMX1 were significantly associated with more advanced clinicopathologic characteristics (stage, tumor status, grade, and histology) besides survival (all P values < 0.05).