101. A new chondrodystrophic mutant in mice. Electron microscopy of normal and abnormal chondrogenesis.
- Author
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Seegmiller R, Fraser FC, and Sheldon H
- Subjects
- Animals, Binding Sites, Bone Development, Cartilage Diseases pathology, Collagen biosynthesis, Epiphyses cytology, Glycosaminoglycans metabolism, Mice, Microscopy, Electron, Ribs cytology, Staining and Labeling, Bone Diseases, Developmental pathology, Cartilage growth & development, Cartilage Diseases genetics, Genes, Lethal, Genes, Recessive, Mutation
- Abstract
The occurrence of a new mutation affecting cartilage and bone in mice is reported. The gene is lethal, shows autosomal recessive inheritance, and has high penetrance. It is not allelic to shorthead and probably not to phocomelia or achondroplasia. It results in a foreshortened face, cleft palate, defective trachea, and shortened long bones with flared metaphyses. Chondrocytes of epiphyseal cartilage from the mutant are not aligned in columns, and there is a decrease in the usual staining of the cartilage matrix. Electron microscope observations show large, wide collagen fibrils with "native" banding in the matrix of mutant cartilage, which are not present in normal cartilage. Possible explanations for the expression of this genetic disorder of cartilage development are put forward.
- Published
- 1971
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