Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.

ABSTRACT: GM1 gangliosidosis is a rare lysosomal storage disorder affecting multiple organ systems, primarily the central nervous system, and is caused by functional deficiency of β-galactosidase (GLB1). Using CRISPR/Cas9 genome editing, we generated a mouse model to evaluate characteristics of the disease in comparison to GM1 gangliosidosis patients. Our Glb1^-/- mice contain small deletions in exons 2 and 6, producing a null allele. Longevity is approximately 50 weeks and studies demonstrated that female Glb1^-/- mice die six weeks earlier than male Glb1^-/- mice. Gait analyses showed progressive abnormalities including abnormal foot placement, decreased stride length and increased stance width, comparable with what is observed in type II GM1 gangliosidosis patients.

SUBMITTER: Nicoli ER 

PROVIDER: S-EPMC10617618 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature