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Published online by Cambridge University Press: 01 July 2016
Balanced, autosomal chromosome mutations do not change the genotype of animals that are hetero- or homozygotes for the mutation. However, in the gametes produced by a heterozygote animal, there normally exists a fraction with unbalanced chromosome complements. Such gametes are functionally effective in mammals and produce embryos with unbalanced genotypes, which leads to zygotic loss. The fertility of chromosomally heterozygote animals is thus lower than the fertility of homozygote animals. This fertility decrease of heterozygotes has been shown in a number of studies on translocations in mice, cattle and humans. The problem is, how such mutations can ever increase in a population until all animals are homozygotes for the chromosome change.