"Tetradysmelia is an inherited defect observed in Holstein cattle (Kühn et al., 1998). It is characterised by complete lack or extremely severe reduction of all limb constituents distal of scapula and pelvic girdle. Affected calves are usually delivered in term, but stillborn. In chicken a similar defect “limbless” characterised by complete lack of wings and legs and strong reduction of the size of the upper beak had been described (Prahlad et al., 1979). The genetic reasons for these spontaneous extreme reductions in limb development have been detected neither in cattle nor in chicken. Linkage analysis within an inbred backcross Holstein family gave initial indication on a locus responsible for Tetradysmelia in the middle part of BTA2 (Kühn et al., 1998). However, Engrailed 1 (EN1), a putative candidate gene located in this chromosomal area, could be excluded as causal gene for the defect by refined mapping (Kühn et al, 1999). No further chromosomal region showed significant linkage to Tetradysmelia in the whole genome scan. However, it had to be considered, that due to the fact, that about 35% of the markers in the whole genome scan were homozygous in the founder of the family, there were still several noninformative chromosomal regions.

C. Kuhn, R. Weikard, L. Panicke, M. Schwerin

Proceedings of the World Congress on Genetics Applied to Livestock Production, Volume 2002. Session 1, , 1.82, 2002
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