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Article

Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Feb 2010

Daley Ethan, Streeten Elizabeth A, Sorkin John D, Kuznetsova Natalia, Shapses Sue A, Carleton Stephanie M, Shuldiner Alan R, Marini Joan C, Phillips Charlotte L, Goldstein Steven A, Leikin Sergey, McBride Daniel J

Abstract excerpt

Osteogenesis imperfecta (OI) is a heritable form of bone fragility typically associated with a dominant COL1A1 or COL1A2 mutation. Variable phenotype for OI patients with identical collagen mutations is well established, but phenotype variability is described using the qualitative Sillence classification. Patterning a new OI mouse model on a specific collagen mutation therefore has been hindered by the absence of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19594296
DOI: 10.1359/jbmr.090720
PMCID: PMC3153383

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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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