Biochemical, Biomarker, and Behavioral Characterization of the Grn^R493X Mouse Model of Frontotemporal Dementia.

ABSTRACT: Heterozygous loss-of-function mutations in the progranulin gene (GRN) are a major cause of frontotemporal dementia due to progranulin haploinsufficiency; complete deficiency of progranulin causes neuronal ceroid lipofuscinosis. Several progranulin-deficient mouse models have been generated, including both knockout mice and knockin mice harboring a common patient mutation (R493X). However, the Grn^R493X mouse model has not been characterized completely. Additionally, while homozygous Grn^R493X and Grn knockout mice have been extensively studied, data from heterozygous mice is still limited. Here, we performed more in-depth characterization of heterozygous and homozygous Grn^R493X knockin mice, which includes biochemical assessments, behavioral studies, and anal

SUBMITTER: Smith DM 

PROVIDER: S-EPMC11496013 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature