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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]
|
