Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A human COL2A1 gene with an Arg519Cys mutation causes osteochondrodysplasia in transgenic mice.

Arthritis and rheumatism - 1 Oct 2004

Sahlman Janne, Pitkänen Marja T, Prockop Darwin J, Arita Machiko, Li Shi-Wu, Helminen Heikki J, Långsjö Teemu K, Puustjärvi Kaija, Lammi Mikko J

Abstract excerpt

OBJECTIVE: An arginine-to-cysteine substitution at position 519 of the COL2A1 gene causes early generalized osteoarthritis with mild chondrodysplasia in humans. In this study, a human COL2A1 gene with the same mutation was introduced into a murine genome having 1 or no alleles of the murine Col2a1 gene, and the skeletal phenotypes of the transgenic mice were compared with those of control mice. METHODS: Mice with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Collagen Type II

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mice, Transgenic

Share to Microscopy, Electron, Transmission

Share to Mutation

Share to Osteochondrodysplasias

Share to Radiography

Source

Identifiers

PMID: 15476249
DOI: 10.1002/art.20552

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A human COL2A1 gene with an Arg519Cys mutation causes osteochondrodysplasia in transgenic mice.PMID 15476249Read ↗

A mutation of the Col2a1 gene (G1170S) alters the transgenic murine phenotype and cartilage matrix homeostasis.Semantic proximity Read ↗

Skeletal development in transgenic mice expressing a mutation at Gly574Ser of type II collagen.Semantic proximity Read ↗

Transgenic mouse models in studies of skeletal disorders.Semantic proximity Read ↗

An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints.Semantic proximity Read ↗

A new Col1a1 conditional knock-in mouse model to study osteogenesis imperfecta.Semantic proximity Read ↗

Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of pro alpha 1(II) collagen chain.Semantic proximity Read ↗

Molecular genetics of chondrodysplasias, including clues to development, structure, and function.Semantic proximity Read ↗

A CRISPR-engineered swine model of COL2A1 deficiency recapitulates altered early skeletal developmental defects in humans.Semantic proximity Read ↗

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.Semantic proximity Read ↗

Depletion of cartilage collagen fibrils in mice carrying a dominant negative Col2a1 transgene affects chondrocyte differentiationSemantic proximity Read ↗

Transgenic mice expressing a partially deleted gene for type I procollagen (COL1A1). A breeding line with a phenotype of spontaneous fractures and decreased bone collagen and mineral.Semantic proximity Read ↗

Clinical correlations of osteoarthritis associated with a single-base mutation (arginine519 to cysteine) in type II procollagen gene. A newly defined pathogenesis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.