Hypomorphic mutation of the mouse Huntington's disease gene orthologue.

Rare individuals with inactivating mutations in the Huntington's disease gene (HTT) exhibit variable abnormalities that imply essential HTT roles during organ development. Here we report phenotypes produced when increasingly severe hypomorphic mutations in the murine HTT orthologue Htt, (Hdhneo...

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Main Authors: Vidya Murthy, Toma Tebaldi, Toshimi Yoshida, Serkan Erdin, Teresa Calzonetti, Ravi Vijayvargia, Takshashila Tripathi, Emanuela Kerschbamer, Ihn Sik Seong, Alessandro Quattrone, Michael E Talkowski, James F Gusella, Katia Georgopoulos, Marcy E MacDonald, Marta Biagioli
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-03-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC6445486?pdf=render