X-linked Alport syndrome (XLAS) is a progressive disorder of basement membranes caused
by mutations in the COL4A5 gene, encoding the α5 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 α5 (IV) chain expression.
Mutant male mice and carrier female mice are viable through reproductive age and fertile …