Lethal dwarfism in rabbits

In the rabbit, lethal dwarfism occurs in individuals homozygous for the dwarf allele (dwdw). Homozygosity for the dwarf allele results in a lethal autosomal recessive mutation. This is caused by a loss of function (LOF) mutation in the High mobility AT-hook 2 (HMGA2) gene, spanning 12.1Kb from 44,709,089 bp to 44,721,236 bp that removes the gene promotor as well as multiple exons. This mutation greatly affects growth of homozygous embryos and homozygous kits once born. These individuals homozygous for the dwarf allele are viable in the womb but die days after being born. Individuals that are heterozygous for the dwarf allele are healthy and unaffected by the lethality of the mutation, but are smaller than individuals homozygous for the wild type allele.

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