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<h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">Complex vertebral malformation</span></h1>
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<div id="mw-content-text" class="mw-body-content mw-content-ltr" lang="de" dir="ltr"><div class="mw-content-ltr mw-parser-output" lang="de" dir="ltr"><p>Die <b>Complex vertebral malformation (CVM)</b> ist ein <a href="Erbkrankheit" title="Erbkrankheit">angeborenes</a> <a href="Syndrom" title="Syndrom">Syndrom</a> bei <a href="Holstein-Rind" title="Holstein-Rind">Holstein-Rindern</a>, das zu <a href="Fehlbildung" title="Fehlbildung">Fehlbildungen</a> der <a href="Kalb" title="Kalb">Kälber</a> führt und <a href="Letalit%C3%A4t" title="Letalität">letal</a> verläuft meist mit <a href="Fehlgeburt" title="Fehlgeburt">Fehlgeburt</a> oder Tod kurz nach der Geburt.<sup id="cite_ref-Thomsen_1-0" class="reference"><a href="#cite_note-Thomsen-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Sie kann auch bei den Rinderrassen Holstein-Friesian und <a href="Wagy%C5%AB" title="Wagyū">Wagyū</a> auftreten.<sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup>
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<div class="mw-heading mw-heading2"><h2 id="Verbreitung">Verbreitung</h2></div>
<p>Die Vererbung erfolgt <a href="Autosom" title="Autosom">autosomal</a>-<a href="Rezessiv" title="Rezessiv">rezessiv</a>.<sup id="cite_ref-Thomsen_1-1" class="reference"><a href="#cite_note-Thomsen-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>
</p><p>Die Verbreitung des Gendefektes kann auf einen Nachkommen des Zuchtbullen <a href="Osborndale_Ivanhoe" title="Osborndale Ivanhoe">Osborndale Ivanhoe</a>, <i>Penstate Ivanhoe Star</i> zurückgeführt werden.<sup id="cite_ref-Thomsen_1-2" class="reference"><a href="#cite_note-Thomsen-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>
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<div class="mw-heading mw-heading2"><h2 id="Ursache">Ursache</h2></div>
<p>Der Erkrankung liegt eine „missense“ <a href="Mutation" title="Mutation">Mutation</a> im <i>SLC35A3</i>-<a href="Gen" title="Gen">Gen</a> zugrunde, das zur <a href="SLC-Transporter" title="SLC-Transporter">SLC-Transporter</a>-Familie gehört.<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup>
</p><p>Dieses Gen spielt beim Menschen beim <i>SLC35A3-CDG</i> (Autismus-Spektrum-Störung-Epilepsie-Arthrogrypose-Syndrom) eine Rolle.<sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup>
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<div class="mw-heading mw-heading2"><h2 id="Literatur">Literatur</h2></div>
<ul><li>J. S. Agerholm, C. Bendixen, O. Andersen, J. Arnbjerg: <i>Complex vertebral malformation in holstein calves.</i> In: <i>Journal of veterinary diagnostic investigation&nbsp;: official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc.</i> Bd. 13, Nr. 4, Juli 2001, S.&nbsp;283–289, <a href="https://doi.org/10.1177/104063870101300401" class="extiw external" title="doi:10.1177/104063870101300401">doi:10.1177/104063870101300401</a>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/11478598?dopt=Abstract">PMID 11478598</a>.</li></ul>
<div class="mw-heading mw-heading2"><h2 id="Einzelnachweise">Einzelnachweise</h2></div>
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<li id="cite_note-Thomsen-1"><span class="mw-cite-backlink">↑ <sup><a href="#cite_ref-Thomsen_1-0">a</a></sup> <sup><a href="#cite_ref-Thomsen_1-1">b</a></sup> <sup><a href="#cite_ref-Thomsen_1-2">c</a></sup></span> <span class="reference-text">B. Thomsen: <i>A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation.</i> In: <i>Genome Research.</i> Bd. 16, 2005, S.&nbsp;97, <a href="https://doi.org/10.1101/gr.3690506" class="extiw external" title="doi:10.1101/gr.3690506">doi:10.1101/gr.3690506</a>.</span>
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<li id="cite_note-2"><span class="mw-cite-backlink"><a href="#cite_ref-2">↑</a></span> <span class="reference-text">vetbook.org:<style data-mw-deduplicate="TemplateStyles:r261891140">
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</style><a rel="nofollow" class="external text" href="https://web.archive.org/web/20180217202949/http://vetbook.org/wiki/cow/index.php?title=Complex_vertebral_malformation">Complex vertebral malformation</a> (<span class="webarchiv-memento"><a href="Webarchivierung#Begrifflichkeiten" title="Webarchivierung">Memento</a></span> vom 17. Februar 2018 im <i><a href="Internet_Archive" title="Internet Archive">Internet Archive</a></i>)</span>
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<li id="cite_note-3"><span class="mw-cite-backlink"><a href="#cite_ref-3">↑</a></span> <span class="reference-text">B. Thomsen, P. Horn, F. Panitz, E. Bendixen, A. H. Petersen, L. E. Holm, V. H. Nielsen, J. S. Agerholm, J. Arnbjerg, C. Bendixen: <i>A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation.</i> In: <i>Genome research.</i> Bd. 16, Nr. 1, Januar 2006, S.&nbsp;97–105, <a href="https://doi.org/10.1101/gr.3690506" class="extiw external" title="doi:10.1101/gr.3690506">doi:10.1101/gr.3690506</a>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/16344554?dopt=Abstract">PMID 16344554</a>, <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1356133/">PMC&nbsp;1356133</a> (freier Volltext).</span>
</li>
<li id="cite_note-4"><span class="mw-cite-backlink"><a href="#cite_ref-4">↑</a></span> <span class="reference-text">Eintrag zu <a rel="nofollow" class="external text" href="https://www.orpha.net/de/disease/detail/370943"><i>Autismus-Spektrum-Störung-Epilepsie-Arthrogrypose-Syndrom.</i></a> In: <i><a href="Orphanet" title="Orphanet">Orphanet</a></i> (Datenbank für seltene Krankheiten)<span class="editoronly" style="display:none;"></span></span>
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