Ueki Y, Ramirez G, Salcedo E, Stabio ME, Lefcort F (2016) Loss of Ikbkap causes slow, progressive retinal degeneration in a mouse model of familial dysautonomia. eNeuro 3:ENEURO.0143-0116.2016. doi: 10.1523/eneuro.0143-16.2016 PMID: 27699209
Summary: Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy that is caused by a mutation in the gene for inhibitor of kappa B kinase complex-associated protein (IKBKAP). A classic hallmark of the disease is progressive blindness marked by retinal ganglion cell (RGC) loss and optic nerve atrophy. To investigate the consequences of Ikbkap loss in the retina, we generated Ikbkap conditional knockout mice using TUBA1a-Cre. Our data demonstrate that this is a powerful model system that faithfully recapitulates the phenotype and progression of FD blindness.
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