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Table 2 Genes with known mutationsa affecting body size identified from domestic species, and corresponding conditions in humans and/or mice

From: Genetic architecture of body size in mammals

Species Syndrome Gene Phenotype description Conditions in humans and/or mice References
Bos taurus Disproportionate chondrodysplasia in Japanese Brown cattle EVC2 (Ellis-van Creveld syndrome 2) SNP and deletion variant; recessive mutation Humans: skeletal dysplasia, Ellis-van Creveld syndrome (OMIM 225500); autosomal recessive [88, 89]
Bos taurus Disproportionate chondrodysplasia in Angus cattle PRKG2 (protein kinase, cGMP-dependent, type II) SNP variant; recessive homozygotes are 15.8 cm shorter at birth than wild-type; suggestion of embryonic lethality Mice: homozygous null mice exhibit disproportionate dwarfism, and decreased weight and body length [90, 91]
Bos taurus Dwarfism in Dexter cattle ACAN (aggrecan) Insertion variant; recessive lethal; heterozygotes show disproportionate chondrodysplasia Humans: short stature and skeletal dysplasia (for example, OMIM 165800); dominant and recessive forms. Mice: spontaneous mutation results in dwarfism and skeletal abnormalities; recessive lethal [9294]
Bos indicus Dwarfism in Brahman cattle GH1 (growth hormone 1) SNP variant; recessive homozygotes are 70% of wild-type phenotype height and weight Humans: proportionate short stature (for example, OMIM 173100); dominant and recessive forms. Mice: ENU-induced mutation with additive effects causing dwarfism [9597]
Canis lupus familiaris Disproportionate chondrodysplasia in dogs FGF4 (fibroblast growth factor 4) SNP variant; identified by between-breed analyses; shortened limbs Humans: involved in cancer and limb development. Mice: null homozygous mice show embryonic mortality; mice with conditional mutations show normal limb development [24, 98100]
Sus scrofa domesticus Disproportionate chondrodysplasia in Danish Landrace COL10A1 (collagen, type X, alpha 1) SNP variant; dominant mutation; shortened limbs Humans: dominant mutation causes Schmid metaphyseal chondrodysplasia (OMIM 156500). Mice: dominant mutation shows abnormal skeletal growth [101105]
Ovis aries Disproportionate chondrodysplasia in Suffolk sheep FGFR3 (fibroblast growth factor receptor 3) SNP variant; overgrowth of limbs; semi-lethal in homozygotes; cannon bone length +1 cm in heterozygotes; recessive but speculated co-dominance Humans: associated with 13 phenotypes, including dwarfing syndromes and cancer (for example, OMIM 100800). Mice: homozygous null mice show abnormal skeletal development, decreased growth and premature death; mild symptoms in heterozygotes [21, 87]
  1. aData obtained from Online Mendelian Inheritance in Animals [106], Mouse Genome Informatics [17] and Online Mendelian Inheritance in Man [107]. ENU, N-ethyl-N-nitrosourea.