Mutant &agr;2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome

@article{Nugent2017MutantS,
  title={Mutant \&agr;2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome},
  author={Alicia A. Nugent and Jong G Park and Yan Wei and Alan P. Tenney and Nicole M. Gilette and Michelle M. DeLisle and Wai-Man Chan and Long Cheng and Elizabeth C. Engle},
  journal={Journal of Clinical Investigation},
  year={2017},
  volume={127},
  pages={1664–1682}
}
Duane retraction syndrome (DRS) is the most common form of congenital paralytic strabismus in humans and can result from &agr;2-chimaerin (CHN1) missense mutations. We report a knockin &agr;2-chimaerin mouse (Chn1KI/KI) that models DRS. Whole embryo imaging of Chn1KI/KI mice revealed stalled abducens nerve growth and selective trochlear and first cervical spinal nerve guidance abnormalities. Stalled abducens nerve bundles did not reach the orbit, resulting in secondary aberrant misinnervation… 
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