Journal article

Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN

Julie AL Cavanagh, Imke Tammen, Peter A Windsor, John F Bateman, Ravi Savarirayan, Frank W Nicholas, Herman W Raadsma

MAMMALIAN GENOME | SPRINGER | Published : 2007

Abstract

Bulldog dwarfism in Dexter cattle is one of the earliest single-locus disorders described in animals. Affected fetuses display extreme disproportionate dwarfism, reflecting abnormal cartilage development (chondrodysplasia). Typically, they die around the seventh month of gestation, precipitating a natural abortion. Heterozygotes show a milder form of dwarfism, most noticeably having shorter legs. Homozygosity mapping in candidate regions in a small Dexter pedigree suggested aggrecan (ACAN) as the most likely candidate gene. Mutation screening revealed a 4-bp insertion in exon 11 (2266_2267insGGCA) (called BD1 for diagnostic testing) and a second, rarer transition in exon 1 (-198C>T) (called ..

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