Journal: Scientific Reports

Article Title: CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease

doi: 10.1038/s41598-022-25914-8

Figure Lengend Snippet: Tissue pathology in Gaa em1935C > A KI mice showing glycogen storage in muscles and lysosomal abnormality in brains. ( A ) Representative bright-field images of heart, diaphragm, and gastrocnemius sections from 3-month-old WT and KI mice, stained with hematoxylin/PAS. Areas of abnormal glycogen accumulation (arrowheads) in cardiac and skeletal muscle tissues were observed in KI mice compared to WT mice (top). ( B ) Immunohistostaining with mouse anti-LAMP1 antibody showing increased cell body staining (arrowheads) in frontal and hippocampal neurons and Purkinje cells of KI mice from all three representative brain areas (frontal cortex, hippocampus and cerebellum). Scale bar represents 100 µm.

Article Snippet: LAMP1 immunohistochemistry staining in paraffin-embedded brain sections from study animals were performed with anti-LAMP1 polyclonal antibody (Cat#24170, Abcam, Waltham, MA) using an ImmPACT DAB Substrate Kit with Peroxidase (Vector Laboratories, Burlingame, CA) following manufacturer’s instructions.

Techniques: Muscles, Staining