Article
Mice deficient in alpha-actinin-4 have severe glomerular disease.
The Journal of clinical investigation - 1 Jun 2003
Kos Claudine H, Le Tu Cam, Sinha Sumita, Henderson Joel M, Kim Sung Han, Sugimoto Hikaru, Kalluri Raghu, Gerszten Robert E, Pollak Martin R
Abstract excerpt
Dominantly inherited mutations in ACTN4, which encodes alpha-actinin-4, cause a form of human focal and segmental glomerulosclerosis (FSGS). By homologous recombination in ES cells, we developed a mouse model deficient in Actn4. Mice homozygous for the targeted allele have no detectable alpha-actinin-4 protein expression. The number of homozygous mice observed was lower than expected under mendelian inheritance....
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