PHEX^L222P Mutation Increases Phex Expression in a New ENU Mouse Model for XLH Disease.

ABSTRACT: Phex^L222P mouse is a new ENU mouse model for XLH disease due to Leu to Pro amino acid modification at position 222. Phex^L222P mouse is characterized by growth retardation, hypophosphatemia, hypocalcemia, reduced body bone length, and increased epiphyseal growth plate thickness and femur diameter despite the increase in PHEX^L222P expression. Actually, Phex^L222P mice show an increase in Fgf23, Dmp1, and Mepe and Slc34a1 (Na-Pi IIa cotransporter) mRNA expression similar to those observed in Hyp mice. Femoral osteocalcin and sclerostin and Slc34a1 do not show any significant variation in Phex^L222P mice. Molecular dynamics simulations support the experimental data. P222 m

SUBMITTER: El Hakam C 

PROVIDER: S-EPMC9407253 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature