GEOTranscriptomicsMus musculusExpression profiling by high throughput sequencinghttps://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE328109GEOGSEfalseHumanized mice carrying a pathogenic GRN deletion as a pre-clinical platform for targeted gene therapies in frontotemporal dementiaHaploinsufficiency of the gene progranulin (GRN) is a major cause of frontotemporal dementia (FTD), for which there are no effective therapies. We developed a novel strain of mice expressing a human GRN transgene bearing a four base pair deletion in exon 5 (GRNc.388_391delCAGT) that causes FTD. Characterization of mice expressing the mutant transgene (GRNmEx5) indicates that GRNmEx5 is expressed at low levels and retains partial function. The GRNmEx5 protein partially rescues progranulin nullizygous-associated neuropathology and transcriptomic dysfunction. The Grn-/-; GRNmEx5 model provides insight into progranulin biology, increases our understanding of a pathogenic variant that causes FTD, and facilitates the development of GRN gene therapies.2026/05/31GSE328109GSM9672537GSM9672538GSM9672539GSM9672540GSM9672541GSM9672542GSM9672543GSM9672532GSM9672533GSM9672534GSM9672535GSM967253619057328109Mus musculus