Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype.

ABSTRACT:

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 States patient population to provide a platform for evaluating nonsense suppressors in vivo.

Methods

We knocked-in c.451C>T nonsense mutation in the Ppt1 gene in C57 embryonic stem (ES) cells using a targeting vector in which LoxP flanked the Neo cassette, which was removed from targeted ES cells by electroporating Cre. Two independently targeted ES clones were injected i

SUBMITTER: Bouchelion A 

PROVIDER: S-EPMC4284126 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature