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Publication : A dominant mutation affecting the feet.

First Author  Cattanach BM Year  1987
Journal  Mouse News Lett Volume  77
Pages  123 Mgi Jnum  J:14112
Mgi Id  MGI:62288 Citation  Cattanach BM, et al. (1987) A dominant mutation affecting the feet. Mouse News Lett 77:123
abstractText  Full text of MNL contribution: c. A dominant mutation affecting the feet. An autosomal dominant mutation that affects the feet and digits of both fore and hind limbs has been detected in a combined hydroxyurea-X-ray mutation experiment (Cattanach and Rasberry, MNL 75: 25-26, 1986). In the heterozygote the metatarsal region of the rear limbs twists outwards, while the digits tends to twist laterally so that the pads face inwards. Soft-tissue syndactylism involving digits 2 and 3, and to a lesser extent 4 is also found and there is often overgrowth and twisting of the toe nails. The effect in the fore feet is similar though less obvious. In the homozygote, the defects of the heterozygote are more severe but there is an extreme shortening of the phalanges such that only the nails define the position of the toes, and the metatarsals of the hind limbs are significantly reduced. The joints immediately proximal are affected in some as yet undefined way but with the consequence that little or no flexing is possible. The long bones do not appear to be affected. A further constant characteristic of the homozygote is a dorsal and upward kinking of the tail to form a hook near its tip. In such regions the vertebrae are fused. The heterozygote cannot readily be identified at birth but can be classified with confidence at weaning. Viability at this age is about 80% of normal, reciprocal crosses of the mutant with + mice having produced in total 107 mutant and 130 + young. Intercrosses have produced 40 presumptive homozygotes among a total of 275 young classified at birth, which suggests a reduced viability, and less than 40% of these survive to weaning. None have yet proved fertile. The mutant has been given the provisional name Talipes, Tal. ( Cattanach and Rasberry)
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