| First Author | Selby P | Year | 1986 |
| Journal | Mouse News Lett | Volume | 75 |
| Pages | 43 | Mgi Jnum | J:14105 |
| Mgi Id | MGI:62282 | Citation | Selby P, et al. (1986) Short digits, a new mutation. Mouse News Lett 75:43 |
| abstractText | Full text of MNL contribution: Short digits, a new mutation. A mutation causing short digits was found in an experiment of W.M. Generoso in which (101 x C3H) Fl male mice were exposed to 600 + 600 R of 96 R/min X radiation (8-week interval) and mated to (SEC x C57BL) Fl females. The mutant was derived from an irradiated stem-cell spermatogonium. The mutation is dominant and fully penetrant with variable expressivity. It has been made congenic on the C57BL/l0Rl genetic background. Fourteen distinct major skeletal malformations have been associated with this mutation in heterozygous condition on the C57BL/l0Rl background, the most striking being the gross shortening of digits 2 through 5 on all four extremities. One phalanx is absent in each of these digits, and at least one of the phalanges remaining is short. The phalanges have abnormal shape, and the joints between them are abnormal. The phalanges on digit 1 are also shortened. Other effects of this mutation include a large hole between the frontals, dyssymphyses of many cervical vertebrae, boney plates over many ventral ribs, and metatarsal-phalanx 1 fusion on digit 4. We propose the name Short digits (Dsh) for this mutation. The mutation is homozygous lethal. Homozygotes often live until day 12.5 p.c. and occasionally until day 18.5 p.c., and they are short-limbed dwarfs lacking forefeet and hindfeet. They usually lack eyes, ears, external genetalia, and a mouth, and their head is greatly reduced in size and has a long trunk. (Selby, Raper, and McKinley, Jr.) |
