Nphs2^tm2.1Antc

Two nucleotide substitutions (c.505G>A, c.506A>G) were inserted into exon 3 and a floxed pgk-hygromycin resistance cassette was inserted into intron 3 via homologous recombination. The hygromycin resistance cassette was then removed via Cre mediated recombination. Northern blot and real time PCR analysis indicate increased transcription compared to wild-type controls. Western blot analysis revealed decreased protein expression. Immunoflourescence analysis of podocytes from homozygous mutants indicates mislocalization of the mutant protein. (J:152878)