| First Author | Carpinelli MR | Year | 2002 |
| Journal | Am J Pathol | Volume | 161 |
| Issue | 5 | Pages | 1925-33 |
| PubMed ID | 12414538 | Mgi Jnum | J:79953 |
| Mgi Id | MGI:2429329 | Doi | 10.1016/S0002-9440(10)64468-9 |
| Citation | Carpinelli MR, et al. (2002) An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets. Am J Pathol 161(5):1925-33 |
| abstractText | We describe the clinical, genetic, biochemical, and molecular characterization of a mouse that arose in the first generation (G(1)) of a random mutagenesis screen with the chemical mutagen ethyl-nitrosourea. The mouse was observed to have skeletal abnormalities inherited with an X-linked dominant pattern of inheritance. The causative mutation, named Skeletal abnormality 1 (Ska1), was shown to be a single base pair mutation in a splice donor site immediately following exon 8 of the Phex (phosphate-regulating gene with homologies to endopeptidases located on the X-chromosome) gene. This point mutation caused skipping of exon 8 from Phex mRNA, hypophosphatemia, and features of rickets. This experimentally induced phenotype mirrors the human condition X-linked hypophosphatemia; directly confirms the role of Phex in phosphate homeostasis, normal skeletal development, and rickets; and illustrates the power of mutagenesis in exploring animal models of human disease. |
