Slc45a2^uw-4J

Sequencing of all exons of the gene identified a T-to-C transition in exon 2 that results in substitution of phenylalanine (TTT) with serine (TCT) in this very highly evolutionarily conserved protein. Failure to complement another mutation at this locus, underwhite 5 Jackson, verified responsibility of these mutations for the observed phenotype. (J:112289)