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Article

An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets.

The American journal of pathology - 1 Nov 2002

Carpinelli Marina R, Wicks Ian P, Sims Natalie A, O'Donnell Kristy, Hanzinikolas Katherine, Burt Rachel, Foote Simon J, Bahlo Melanie, Alexander Warren S, Hilton Douglas J

Abstract excerpt

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...

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Identifiers

PMID: 12414538
DOI: 10.1016/S0002-9440(10)64468-9
PMCID: PMC1850771

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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