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 | |
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 | |
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 | |
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 | |
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 | |
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 | |
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 |