Article
A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles.
Human molecular genetics - 1 Jul 2009
Pollizzi Kristen, Malinowska-Kolodziej Izabela, Doughty Cheryl, Betz Charles, Ma Jian, Goto June, Kwiatkowski David J
Abstract excerpt
Tuberous sclerosis complex (TSC) is a tumor suppressor gene syndrome in which hamartomas develop in multiple organ systems. Knockout and conditional alleles of Tsc1 and Tsc2 have been previously reported. Here, we describe the generation of a novel hypomorphic allele of Tsc2 (del3), in which exon 3, encoding 37 amino acids near the N terminus of tuberin, is deleted. Embryos homozygous for the del3 allele survive...
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