Article
Mouse model of X-linked Alport syndrome.
Journal of the American Society of Nephrology : JASN - 1 Jun 2004
Rheault Michelle N, Kren Stefan M, Thielen Beth K, Mesa Hector A, Crosson John T, Thomas William, Sado Yoshikazu, Kashtan Clifford E, Segal Yoav
Abstract excerpt
X-linked Alport syndrome (XLAS) is a progressive disorder of basement membranes caused by mutations in the COL4A5 gene, encoding the alpha5 chain of type IV collagen. A mouse model of this disorder was generated by targeting a human nonsense mutation, G5X, to the mouse Col4a5 gene. As predicted for a nonsense mutation, hemizygous mutant male mice are null and heterozygous carrier female mice are mosaic for...
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