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Article

Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.

Nature genetics - 1 Apr 1996

Colvin J S, Bohne B A, Harding G W, McEwen D G, Ornitz D M

Abstract excerpt

Fibroblast growth factor receptor 3 (Fgfr3) is a tyrosine kinase receptor expressed in developing bone, cochlea, brain and spinal cord. Achondroplasia, the most common genetic form of dwarfism, is caused by mutations in FGFR3. Here we show that mice homozygous for a targeted disruption of Fgfr3 exhibit skeletal and inner ear defects. Skeletal defects include kyphosis, scoliosis, crooked tails and curvature and...

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Source

Identifiers

PMID: 8630492
DOI: 10.1038/ng0496-390

Genes

FGFR3

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.PMID 8630492Read ↗

Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia.Semantic proximity Read ↗

A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.Semantic proximity Read ↗

Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasiaSemantic proximity Read ↗

A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors.Semantic proximity Read ↗

Fibroblast growth factor receptor 3 is a negative regulator of bone growth.Semantic proximity Read ↗

Generation of Fgfr3 conditional knockout mice.Semantic proximity Read ↗

FGFR3 mutation causes abnormal membranous ossification in achondroplasiaSemantic proximity Read ↗

Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.Semantic proximity Read ↗

A Ser365->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasiaSemantic proximity Read ↗

An Fgfr3-activating mutation in immature murine osteoblasts affects the appendicular and craniofacial skeleton.Semantic proximity Read ↗

Skeletal overgrowth is mediated by deficiency in a specific isoform of fibroblast growth factor receptor 3.Semantic proximity Read ↗

Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis.Semantic proximity Read ↗

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