ArticleMammalian genome : official journal of the International Mammalian Genome Society2004
New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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34 citing papers in PubMed, 59 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
- Hearing impairment in X-linked hypophosphatemia: a review.JBMR plus · 2025Article
- Cellular and genetic mechanisms that shape the development and evolution of tail vertebral proportion in mice and jerboas.Nature communications · 2025Article
- X-Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment.Journal of paediatrics and child health · 2025Review
- Approach to Hypophosphatemic Rickets.The Journal of clinical endocrinology and metabolism · 2022Article
- PHEXGenes · 2022Article
- A novel therapeutic strategy for skeletal disorders: Proof of concept of gene therapy for X-linked hypophosphatemia.Science advances · 2021Article
- An Overview of Rickets in Children.Kidney international reports · 2020Review
- Dentoalveolar Defects in theJournal of dental research · 2020Article
- FGF23 and its role in X-linked hypophosphatemia-related morbidity.Orphanet journal of rare diseases · 2019Review
- Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology.Developmental biology · 2016Article
- Conditional Deletion of Murine Fgf23: Interruption of the Normal Skeletal Responses to Phosphate Challenge and Rescue of Genetic Hypophosphatemia.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2016Article
- Article
- Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis.PloS one · 2016Article
- Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis.Current osteoporosis reports · 2015Review
- A Genetic Murine Model of Endolymphatic Hydrops: The Phex Mouse.Current otorhinolaryngology reports · 2014Article
- A mouse model validates the utility of electrocochleography in verifying endolymphatic hydrops.Journal of the Association for Research in Otolaryngology : JARO · 2014Article
- Neither absence nor excess of FGF23 disturbs murine fetal-placental phosphorus homeostasis or prenatal skeletal development and mineralization.Endocrinology · 2014Article
- Therapeutic management of hypophosphatemic rickets from infancy to adulthood.Endocrine connections · 2014Article
- Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia.Calcified tissue international · 2013Article
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11 authors at 3 institutions in 4 countries.
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Abstract
X-linked hypophosphatemic rickets (XLH) in humans is caused by mutation in the PHEX gene. Previously, three mutations in the mouse Phex gene have been reported: Phex(Hyp), Gy, and Phex(Ska1). Here we report analysis of two new spontaneous mutation in the mouse Phex gene, Phex(Hyp-2J) and Phex(Hyp-Duk). Phex(Hyp-2J) and Phex(Hyp-Duk) involve intragenic deletions of at least 7.3 kb containing exon 15, and 30 kb containing exons 13 and 14, respectively. Both mutations cause similar phenotypes in males, including shortened hind legs and tail, a shortened square trunk, hypophosphatemia, hypocalcemia, and rachitic bone disease. In addition, mice carrying the Phex(Hyp-Duk) mutation exhibit background-dependent variable expression of deafness, circling behavior, and cranial dysmorphology, demonstrating the influence of modifying genes on Phex-related phenotypes. Cochlear cross-sections from Phex(Hyp-2J)/Y and Phex(Hyp-Duk)/Y males reveal a thickening of the temporal bones surrounding the cochlea with the presence of a precipitate in the scala tympani. Evidence of the degeneration of the organ of Corti and spiral ganglion also are present in the hearing-impaired Phex(Hyp-Duk)/Y mice, but not in the normal-hearing Phex(Hyp-2J)/Y mice. Analysis of the phenotypes noted in Phex(Hyp-Duk)/Y and Phex(Hyp-2J)/Y males, together with those noted in Phex(Ska1)/Y and Phex(Hyp)/Y males, now allow XLH-related phenotypes to be separated from non-XLH-related phenotypes, such as those noted in Gy/Y males. Also, identification of the genetic modifiers of hearing and craniofacial dysmorphology in Phex(Hyp-Duk)/Y mice could provide insight into the phenotypic variation of XLH in humans.
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