A Spontaneous Missense Mutation in Branched Chain Keto Acid Dehydrogenase Kinase in the Rat Affects Both the Central and Peripheral Nervous Systems.

A novel mutation, causing a phenotype we named frogleg because its most obvious characteristic is a severe splaying of the hind limbs, arose spontaneously in a colony of Sprague-Dawley rats. Frogleg is a complex phenotype that includes abnormalities in hind limb function, reduced brain weight with d...

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Bibliographic Details
Main Authors: J Samuel Zigler, Colin A Hodgkinson, Megan Wright, Andrew Klise, Olof Sundin, Karl W Broman, Fielding Hejtmancik, Hao Huang, Bonnie Patek, Yuri Sergeev, Stacey Hose, Cory Brayton, Jiao Xaiodong, David Vasquez, Nicholas Maragakis, Susumu Mori, David Goldman, Ahmet Hoke, Debasish Sinha
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4966912?pdf=render