Phex^m1Jrt

Sequencing identified a A-to-T replacement in the fourth base pair of exon 14. This results in a lysine to stop codon change at position 496 of the encoded protein. Phex mRNA is expressed at reduced levels in mineralized stromal cells from mutant male hemizygous mice but the encoded protein is undetectable by immunoblot analysis on protein from femurs of mutant male hemizygous mice. (J:196537)