Article
A spontaneous mutation in contactin 1 in the mouse.
PloS one - 1 Jan 2011
Davisson Muriel T, Bronson Roderick T, Tadenev Abigail L D, Motley William W, Krishnaswamy Arjun, Seburn Kevin L, Burgess Robert W
Abstract excerpt
Mutations in the gene encoding the immunoglobulin-superfamily member cell adhesion molecule contactin1 (CNTN1) cause lethal congenital myopathy in human patients and neurodevelopmental phenotypes in knockout mice. Whether the mutant mice provide an accurate model of the human disease is unclear; resolving this will require additional functional tests of the neuromuscular system and examination of Cntn1 mutations...
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