Mice homozygous for c.451C&gt;T mutation in <i>Cln1</i> gene recapitulate <scp>INCL</scp> phenotype

Abstract excerpt

OBJECTIVE: Nonsense mutations account for 5-70% of all genetic disorders. In the United States, nonsense mutations in the CLN1/PPT1 gene underlie >40% of the patients with infantile neuronal ceroid lipofuscinosis (INCL), a devastating neurodegenerative lysosomal storage disease. We sought to generate a reliable mouse model of INCL carrying the most common Ppt1 nonsense mutation (c.451C>T) found in the United...

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