A Murine Model for Juvenile NCL: Gene Targeting of MouseCln3

Abstract

JNCL is a neurodegenerative disease of childhood caused by mutations in theCLN3gene. A mouse model for JNCL was created by disrupting exons 1–6 ofCln3,resulting in a null allele.Cln3null mice appear clinically normal at 5 months of age; however, like JNCL patients, they exhibit intracellular accumulation of autofluorescent material. A second approach will generate mice in which exons 7 and 8 ofCln3are deleted, mimicking the common mutation in JNCL patients.