A novel mouse model for <i>LAMA2</i>-related muscular dystrophy with analysis of molecular pathogenesis and clinical phenotype.

ABSTRACT: Our understanding of the molecular pathogenesis of LAMA2-related muscular dystrophy (LAMA2-MD) requires improving. Here, we report the phenotype, neuropathology, and transcriptomics data (scRNA-seq and bulk RNA-seq) of a new Lama2 knockout mouse (dy^H/dy^H) which was created based on the human LAMA2-MD mutation hotspot region using CRISPR-Cas9. The dy^H/dy^H mice presented a severe phenotype with muscular dystrophy. Mouse brain scRNA-seq showed that Lama2 gene was expressed predominantly and specifically in vascular and leptomeningeal fibroblasts and vascular smooth muscle cells, and weakly in astrocytes in wild-type mouse. Laminin α2 expression on the cortical surface was observed with immunofluorescence. In dy

SUBMITTER: Tan D 

PROVIDER: S-EPMC12443477 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature