Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4)
Cord Drogemuller , Tosso Leeb , Barbara Harlizius , Imke Tammen , Ottmar Distl , Martin Holtershinken , Arcangelo Gentile , Amandine Duchesne and Andre Eggen
Research article
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Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4)
Cord Drogemuller , Tosso Leeb , Barbara Harlizius , Imke Tammen , Ottmar Distl , Martin Holtershinken , Arcangelo Gentile , Amandine Duchesne and Andre Eggen
Abstract (provisional)
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Background
Isolated syndactyly in cattle, also known as mulefoot, is inherited as an autosomal recessive trait with variable penetrance in different cattle breeds. Recently, two independent mutations in the bovine LRP4 gene have been reported as the primary cause of syndactyly in the Holstein and Angus cattle breeds.
Results
We confirmed the previously described LRP4 exon 33 two nucleotide substitution in most of the affected Holstein calves and revealed additional evidence for allelic heterogeneity by the identification of four new LRP4 non-synonymous point mutations co-segregating in Holstein, German Simmental and Simmental-Charolais families.
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