A murine model for juvenile NCL: gene targeting of mouse Cln3

Mol Genet Metab. 1999 Apr;66(4):309-13. doi: 10.1006/mgme.1999.2828.


JNCL is a neurodegenerative disease of childhood caused by mutations in the CLN3 gene. A mouse model for JNCL was created by disrupting exons 1-6 of Cln3, resulting in a null allele. Cln3 null 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 of Cln3 are deleted, mimicking the common mutation in JNCL patients.

MeSH terms

  • Animals
  • Brain / anatomy & histology
  • Cyclins*
  • Disease Models, Animal*
  • Exons
  • Fluorescence
  • Fungal Proteins / metabolism
  • Gene Library
  • Gene Targeting
  • Humans
  • Membrane Glycoproteins / metabolism
  • Mice
  • Models, Genetic
  • Molecular Chaperones / metabolism
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Saccharomyces cerevisiae Proteins*


  • CLN3 protein, S cerevisiae
  • CLN3 protein, human
  • Cyclins
  • Fungal Proteins
  • Membrane Glycoproteins
  • Molecular Chaperones
  • Saccharomyces cerevisiae Proteins