Article
An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line.
Proceedings of the National Academy of Sciences of the United States of America - 20 Nov 2007
Zvaritch Elena, Depreux Frederic, Kraeva Natasha, Loy Ryan E, Goonasekera Sanjeewa A, Boncompagni Simona, Boncompagi Simona, Kraev Alexander, Gramolini Anthony O, Dirksen Robert T, Franzini-Armstrong Clara, Seidman Christine E, Seidman J G, Maclennan David H
Abstract excerpt
A heterozygous Ile4898 to Thr (I4898T) mutation in the human type 1 ryanodine receptor/Ca(2+) release channel (RyR1) leads to a severe form of central core disease. We created a mouse line in which the corresponding Ryr1(I4895T) mutation was introduced by using a "knockin" protocol. The heterozygote does not exhibit an overt disease phenotype, but homozygous (IT/IT) mice are paralyzed and die perinatally,...
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