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Article

Molecular characterisation of the Hyp deletion and an improved assay for its detection.

Bone - 1 Mar 2012

Sheen Campbell R, Pilarowski Genay O W, Wang Wei, Millan Jose Luis

Abstract excerpt

The Hyp mouse is a commonly used model for the study of the phosphate wasting disease X-linked hypophosphataemia. The defect in this mouse line is a deletion that includes exons 16 to 22 of Phex, although the exact extent of this X chromosome deletion remains unknown. This complicates genotyping which increases costs, time and difficulty of working with this important model. We aimed to determine the molecular...

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Identifiers

PMID: 22155509
DOI: 10.1016/j.bone.2011.11.018
PMCID: PMC3278584

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular characterisation of the Hyp deletion and an improved assay for its detection.PMID 22155509Read ↗

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Pex Gene Deletions in Gy and Hyp Mice Provide Mouse Models for X-Linked HypophosphatemiaSemantic proximity Read ↗

The X chromosome deletion in HYP mice extends into the intergenic region but does not include the SAT gene downstream from Phex.Semantic proximity Read ↗

Kbus/Idr, a mutant mouse strain with skeletal abnormalities and hypophosphatemia: identification as an allele of 'Hyp'.Semantic proximity Read ↗

Overexpression of human PHEX under the human beta-actin promoter does not fully rescue the Hyp mouse phenotype.Semantic proximity Read ↗

Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.Semantic proximity Read ↗

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Genetic screening for X-linked hypophosphatemic mice and ontogenic characterization of the defect in the renal sodium-phosphate transporter.Semantic proximity Read ↗

PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.Semantic proximity Read ↗

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