Mice that are homozygous for the targeted mutation are viable and fertile, but have reduced survival, which drops to 80% by 12 months of age. Northern blot and RT PCR analyses of kidney, liver and brain tissue from homozygotes detect mutant mRNA. Truncated polypeptide and non-truncated alternatively spliced gene products are present. This 1.02kb deletion mutation replicates the most common mutation (&gt;80%) found in Juvenile-onset neuronal ceroid lipofuscinosis (JNCL) patients. Autofluorescent lysosomal material containing immunoreactive ATPase subunit c are found in all tissues. Neuron and hepatocyte membrane deposits begin to accumulate as early as E19.5. Electron microscopic analysis reveals inclusions characteristic of JNCL tissue. Hypopigmented homozygotes exhibit retinal degeneration beginning at 10 months of age. Gliosis in the CNS and abnormal clasping behavior and gait traces indicate neurodegeneration. Onset and severity of disease phenotype is variable, which might be due to the mixed genetic background. Heterozygous mice do not display the phenotype. This mutant mouse strain may be useful in studies of Juvenile-onset neuronal ceroid lipofuscinosis (JNCL), Batten or Spielmeyer-Vogt disease.

These <i> Cln3</i> knock-out mice exhibit retinal degeneration, neurodegeneration, and reduced survival.

Typically mice are recovered in 12-16 weeks. Contact Customer Service to place an order or for more information.

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