Slc45a2^uw-5J

Sequencing of all exons of the gene identified a G-to-A transition in exon 6 that replaces glycine (GGA) with arginine (AGA) in the very highly evolutionarily conserved protein. Failure to complement another mutation at this locus, underwhite 4 Jackson, suggests that these mutations are responsible for the phenotype. (J:112288)