Pig

A 63‐bp insertion in exon 2 of the porcine KIF21A gene is associated with arthrogryposis multiplex congenita

4 monthes ago   |   By Animal Genetics

Summary
A recessive form of arthrogryposis multiplex congenita was detected 20 years ago in the Swiss Large White pig population. A diagnostic marker test enabled the identification of carrier animals, but the underlying causal mutation remains unknown. To identify the mutation underlying AMC, we collected SNP chip genotyping data for 11 affected piglets and 23 healthy pigs. Association testing using 47 829 SNPs confirmed that AMC maps to SSC5. Subsequent autozygosity mapping revealed a common 6.06 Mb region of extended homozygosity in 11 piglets affected by AMC. Using WGS data, we...
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