A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation

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Figure 1.
Figure 1.

Complex vertebral malformation. (A) Affected calf. Notice the short neck and contraction of the distal joints. (B) Radiograph of the cervico-thoracic part of the vertebral column (arch removed), showing multiple malformed vertebrae and scoliosis (arrows) and fusion of the proximal part of several ribs (arrowheads), ventro-dorsal projection. (C) Pedigree and haplotype analysis. All affected calves can be traced back to a common ancestor Carlin-M Ivanhoe Bell. Genotypes of seven polymorphic makers at the disease locus on BTA3 that helped to define the disease locus are shown. The combined genotyping results suggested that the disease gene is located near BMS2790 in an ∼5 cM region flanked by the markers INRA003 and ILSTS029. The shared disease-associated haplotype is shaded in gray. (Filled symbols) Affected; (open symbols) unaffected; (half-filled symbols) carrier.

This Article

  1. Genome Res. 16: 97-105

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