Psap^tm3.1Ggb

A nucleotide substitution was created that results in changing cysteine codon 5 (with respect to Saposin C) in exon 11 to proline and a loxP site flanked neomycin resistance gene cassette was inserted into intron 9. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation eliminates one of the encoded protein's three disulfide bridges and results in a selective deficiency in Saposin C. The absence of Saposin C was confirmed by western blot analysis on homozygous fibroblasts; the expression of Saposin A, B and D (the other forms post-translationally generated from this locus) was not affected. (J:155864)