| First Author | Maddox BK | Year | 1998 |
| Journal | J Craniofac Genet Dev Biol | Volume | 18 |
| Issue | 4 | Pages | 195-201 |
| PubMed ID | 10100048 | Mgi Jnum | J:54161 |
| Mgi Id | MGI:1334159 | Citation | Maddox BK, et al. (1998) Craniofacial and otic capsule abnormalities in a transgenic mouse strain with a Col2a1 mutation. J Craniofac Genet Dev Biol 18(4):195-201 |
| abstractText | 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 hearing loss associated with type II collagen mutations, we examined the development of the otic capsule in the transgenic mice. It appeared to be smaller overall, relative to the skull proportions, and rather than the normal rounded dimensions, the transgenic capsule was flattened and elongated. We speculate that the cartilage of the developing otic capsule was less able to resist the mechanical forces from the developing brain and other tissues within the cranium and thus became deformed under pressure. We further speculate that the hearing loss associated with the chondrodysplasia phenotype is at least partially due to these defects in the developing cartilage matrix of the otic capsule. |
