A novel mouse model for LAMA2-related muscular dystrophy with analysis of molecular pathogenesis and clinical phenotype

Our understanding of the molecular pathogenesis of LAMA2-related muscular dystrophy (LAMA2-MD) requires improvement. Here, we report the phenotype, neuropathology, and transcriptomics data (scRNA-seq and bulk RNA-seq) of a new Lama2 knockout mouse (dyH/dyH), which was created based on the human LAMA2-MD mutation hotspot region using CRISPR-Cas9. The dyH/dyH mice presented a severe phenotype with muscular dystrophy. Mouse brain scRNA-seq showed that the Lama2 gene was expressed predominantly and specifically in vascular and leptomeningeal fibroblasts and vascular smooth muscle cells, and weakly in astrocytes in wild-type mice. Laminin α2 expression on the cortical surface was observed with immunofluorescence. In dyH/dyH, Lama2 expression was decreased in those cell types, which might be associated with the disruption of gliovascular basal lamina assembly. Additionally, transcriptomic investigation of muscles showed 2020 differentially expressed genes, mainly associated with the impa..., , # Data from: A novel mouse model for LAMA2-related muscular dystrophy with analysis of molecular pathogenesis and clinical phenotype Dataset DOI: [10.5061/dryad.3j9kd51xs](10.5061/dryad.3j9kd51xs) ## Description of the data and file structure We have generated a novel dy^H^/dy^H^ knockout mouse with ΔExon 3 at the *Lama2* locus. The bulk RNA-seq data of the biceps femoris of the dy^H^/dy^H^ and wild-type (WT) mice have been deposited. RNA sequencing data of the biceps femoris obtained from 14-day-old mice of WT (n = 4) and dy^H^/dy^H^ (KO- LAMMA2 knockout) (n = 6) has been shown with files WT1, WT2, WT3, WT4, KO1, KO2, KO3, KO4, KO5, and KO6. The RNA samples were submitted to CapitalBio ([https://www.capitalbiotech.com](https://www.capitalbiotech.com)) for next-generation sequencing with the TruSeq RNA Exome. Paired-end sequencing (2 × 150 bp reads) was performed on successful RNA libraries using the Illumina HiSeq X-Ten platform. During the experiment, investigators were blinded ..., ,