In the rabbit (Oryctolagus cuniculus), lethal dwarfism occurs in individuals homozygous for the dwarf allele (dwdw).[1][2] Homozygosity for the dwarf allele results in a lethal autosomal recessive mutation.[1][2] 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.[1][2] This mutation greatly affects growth of homozygous embryos (resulting in stunted size and altered craniofacial development) and homozygous kits once born.[1] These individuals homozygous for the dwarf allele are viable in the womb but die days after being born.[2] 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.[1][2]
^ abcdeCarneiro, Miguel; Hu, Dou; Archer, John; Feng, Chungang; Afonso, Sandra; Chen, Congying; Blanco-Aguiar, José A.; Garreau, Hervé; Boucher, Samuel; Ferreira, Paula G.; Ferrand, Nuno; Rubin, Carl-Johan; Andersson, Leif (February 2017). "Dwarfism and Altered Craniofacial Development in Rabbits Is Caused by a 12.1 kb Deletion at the HMGA2 Locus". Genetics. 205 (2): 955–965. doi:10.1534/genetics.116.196667. ISSN 0016-6731. PMC 5289862. PMID 27986804.
^ abcdeHu, Dou. "Identification and analysis of the dwarf mutation in domestic rabbits" (PDF).
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