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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

[92–94]

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

[95–97]

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, 98–100]

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

[101–105]

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.