ArticleThe American journal of pathology2002
An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets.
Article in The American journal of pathology, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 42 citations in OpenAlex.
- Treatment with Minicircle DNA Expressing a FGF23 Fragment in a Clinically relevant Mouse Model of X-Linked Hypophosphatemic Rickets.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- PHEXGenes · 2022Article
- Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).Human mutation · 2022Article
- FGF23 and its role in X-linked hypophosphatemia-related morbidity.Orphanet journal of rare diseases · 2019Review
- Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia.Calcified tissue international · 2013Article
- New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.Mammalian genome : official journal of the International Mammalian Genome Society · 2012Article
- A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2012Article
- Kbus/Idr, a mutant mouse strain with skeletal abnormalities and hypophosphatemia: identification as an allele of 'Hyp'.Journal of biomedical science · 2011Article
- N-ethyl-N-nitrosourea mutagenesis produced a small number of mice with altered plasma electrolyte levels.Journal of biomedical science · 2009Article
- Role of matrix extracellular phosphoglycoprotein in the pathogenesis of X-linked hypophosphatemia.Journal of the American Society of Nephrology : JASN · 2005Article
- New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2004Article
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10 authors at 4 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
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.
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