Craniofacial and otic capsule abnormalities in a transgenic mouse strain with a Col2a1 mutation.

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Article

Craniofacial and otic capsule abnormalities in a transgenic mouse strain with a Col2a1 mutation.

Journal of craniofacial genetics and developmental biology - 1 Jan 2000

Maddox B K, Garofalo S, Horton W A, Richardson M D, Trune D R

Abstract excerpt

Abnormal craniofacial features of a transgenic mouse model of chondrodysplasia with a type II collagen mutation (Gly574Ser) are described in this report. In addition to a shortened mandible and cleft palate, a misshapen otic capsule was observed. Interestingly, hearing impairment is often a component of the chondrodysplasia phenotype that results from mutations in COL2A1. To identify a potential mechanism in the...

Topics

Animals
Cartilage
Chondrodysplasia Punctata
Collagen
Craniofacial Abnormalities
Disease Models, Animal
Ear, Inner
Embryo, Mammalian
Mice
Mice, Transgenic
Phenotype
Point Mutation
Time Factors

Source

Open in PubMed

Identifiers

PMID: 10100048

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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