Data from: 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 impaired muscle cytoskeleton and development. In summary, this study
provided potentially useful information for understanding the molecular
pathogenesis of LAMA2-MD.