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Mice with a conditional deletion of Talpid3 (KIAA0586) – a model for Joubert syndrome

29 Mar 2019

Abstract excerpt

Joubert syndrome (JS) is a ciliopathy associated with mutations in numerous genes encoding cilia components. TALPID3 encoded by KIAA0856 in man (2700049A03Rik in mouse) is a centrosomal protein essential for the assembly of primary cilia. Mutations in KIAA0856 have been recently identified in JS patients. Herein, we describe a novel mouse JS model with a conditional deletion of the conserved exons 11-12 of...

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PMID: 30924151
DOI: 10.1002/path.5271

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