A T to A nucleotide substitution resulting in an amino acid substitution of the fifth cysteine to serine at position 384 (p.C384S) in exon 11 was knocked into the open reading frame along with a floxed neo cassette that was then removed by cre-mediated recombination. This mutation eliminates one of this protein's three disulfide bridges and results in a selective deficiency in Saposin C. (J:283977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count