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Disease models

Mouse model of familial dysautonomia (FD) with neural crest lineage-specific knockout of inhibitor of k-light polypeptide gene enhancer in B-cells kinase complex-associated protein (Ikbkap)

A mouse model of FD with conditional knockout of Ikbkap in neural crest cells could help identify new therapeutics to treat the disease. FD causes peripheral nervous system dysfunction and is caused by mutations in the Ikbkap gene that disrupt normal splicing. In mice, conditional knockout of Ikbkap in the neural crest caused early death and decreased the number of neurotrophic tyrosine kinase receptor 1 (Ntrk1; TrkA)-expressing nociceptive and thermoreceptive neurons compared with no alteration. Primary neural crest migration and development of sympathetic and dorsal root ganglia were not altered by knockout. Next steps could include using the model to test therapeutic candidates.

SciBX 6(47); doi:10.1038/scibx.2013.1363
Published online Dec. 12, 2013

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George, L. et al. Proc. Natl. Acad. Sci. USA; published online Oct. 30, 2013;
Contact: Frances Lefcort, Montana State University, Bozeman, Mont.