| First Author | Seegmiller R | Year | 1969 |
| Journal | Mouse News Lett | Volume | 40 |
| Pages | 38 | Mgi Jnum | J:24730 |
| Mgi Id | MGI:72460 | Citation | Seegmiller R (1969) Chondrodysplasia - an autosomal recessive mutation. Mouse News Lett 40:38 |
| abstractText | Full text of MNL contribution: Chondrodysplasia* -- an autosomal recessive mutation. A spontaneous mutation affecting chondrogenesis occurred (1962) in the C57BL/6 strain. The newborn have short limbs, cleft palates, and short broad heads, etc., and die shortly after birth from asphyxiation due to defective tracheal rings. Segregation ratios fit the expectation for an autosomal recessive gene. It is not allelic to sho. Histologically, there is a sparsity of chondrocytes, which fail to form orderly columns. The matrix is quite fibrillar and stains less intensely than normal with toluidine blue and alcian blue, the difference between mutant and normal littermates existing as early as day 13 of gestation. Appositional growth at the perichondrium and later at the diaphysial periosteum appears normal. No difference was observed in mesenchyme-cell aggregation and proliferation during the early limb-bud stages. Micrognathia, resulting from insufficient growth of Meckel's cartilage, is seen from day 13 onward. It is postulated that the tongue is not drawn forward and downward by the lower jaw, but remains between the vertical palatine shelves, offering resistance to shelf movement and thereby preventing palate closure. Using radioisotopes, we are currently investigating the chondrocytes' ability to incorporate precursor substances and to synthesize and secrete cartilage matrix. Electron-microscope investigations are also in progress (Seegmiller). * The name is tentative pending tests for allelism. |
