{"id":292143,"date":"2026-11-03T14:40:18","date_gmt":"2026-11-03T13:40:18","guid":{"rendered":"https:\/\/labogen.com\/geneettiset-sairaudet-koira\/brachycephaly-skull-shape-variant-smoc2\/"},"modified":"2026-11-03T14:40:18","modified_gmt":"2026-11-03T13:40:18","slug":"brachycephaly-skull-shape-variant-smoc2","status":"publish","type":"page","link":"https:\/\/labogen.com\/fi\/geneettiset-sairaudet-koira\/brachycephaly-skull-shape-variant-smoc2\/","title":{"rendered":"Brachycephaly (skull shape) variant SMOC2"},"content":{"rendered":"<div class=\"wrap-top\"><div class=\"wrap-left\"><h1 class=\"header-1\">Brachycephaly (skull shape) variant SMOC2<\/h1><h4><strong>General description<\/strong><\/h4><p class=\"bodytext\"><p>Canine skull shape is influenced by several genetic factors. A variant in the SMOC2 gene is strongly associated with shortening of the facial skeleton and thus with brachycephalic head shapes.<\/p><p>The genetic test can provide information about one genetic factor that contributes to the development of a brachycephalic skull shape. However, as brachycephaly is a complex trait, the SMOC2 genotype alone cannot be used to predict either the individual skull shape or the risk of brachycephaly-associated disorders.<\/p><\/p><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-details\">Order details<\/summary><table border=\"0\"><tr><td width=\"45%\"><span><strong>Test number<\/strong><\/span><\/td><td>9158<\/td><\/tr><tr><td><strong>Abbreviation<\/strong><\/td><td>SMOC2<\/td><\/tr><tr><td><strong>Sample material<\/strong><\/td><td>0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)<\/td><\/tr><tr><td><strong>Test duration<\/strong><\/td><td>7-14 working days<\/td><\/tr><\/table><\/details><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>skeletal<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>complex<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>SMOC2<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>INS<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA001551\/9615\/' target='_blank'>OMIA:001551-9615<\/a><\/td><\/tr><\/table><\/details><\/div><div class=\"order-now\"><strong><a href=\"https:\/\/shop.labogen.com\/en\/guest\/order?selectedSpecies=14\">Order now ...<\/a><\/strong><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-detailed\"><details><summary class=\"detail-summary\">Detailed description<\/summary><p class=\"detailed\"><p>Canine head shape ranges from <strong>elongated, dolichocephalic<\/strong> to <strong>markedly shortened, brachycephalic skull shapes<\/strong>. Genetic studies show that <strong>these differences are influenced by several genetic loci<\/strong>. In a genome-wide study, at least five regions were identified that contribute to variation in skull shape. One of these genetic factors is located in the <strong><em>SMOC2<\/em> gene<\/strong>.<\/p>  <p><em>SMOC2<\/em> encodes an extracellular matrix protein that is involved, among other functions, in cell growth, cell adhesion and the regulation of various growth factors. During development, SMOC2 is expressed in structures that give rise to parts of the facial skeleton and jaw. The genetic variant described here is an insertion in the <strong><em>SMOC2<\/em> gene<\/strong>, which leads to reduced production of the SMOC2 protein.<\/p>  <p>The variant is strongly associated with shortening of the facial skeleton and may therefore contribute to the development of a brachycephalic skull shape. Additional genetic factors, including variants in the <strong><em>BMP3<\/em><\/strong> gene, also influence facial length and skull shape.<\/p>  <p>It is important to note that the genetic test assesses the genetic influence on skull shape and does not directly determine disease risk. In simplified terms, the relationship can be described as follows: the genetic variant may influence development of the facial skeleton and contribute to its shortening. A pronounced brachycephalic skull shape may in turn be associated with an increased risk of certain health problems.<\/p>  <p><strong>Relevance for breeding<\/strong><\/p>  <p>The SMOC2 test may be particularly relevant for breeding decisions when different SMOC2 genotypes occur within a population. The test result indicates whether the variant associated with shortening of the facial skeleton is present and can be considered <strong>together with the phenotypic assessment<\/strong> of functionally relevant traits such as muzzle length, nostril opening or breathing.<\/p>  <p>In the underlying study, the variant showed a <strong>dose-dependent effect<\/strong>: dogs with two copies had, on average, a more pronounced shortening of the facial skeleton than heterozygous dogs.<\/p>  <p>The test is most informative when different genotypes occur within a breed and genetic selection between breeding animals is therefore possible. However, in some strongly brachycephalic breeds, the described variant is already very common or nearly fixed. If it is largely or completely fixed within a breed, breeding animals differ little or not at all with regard to this genetic factor. The test then offers only limited scope for genetic differentiation between breeding animals.<\/p>  <p><strong>Please note:<\/strong> Actual skull shape is influenced by several genes as well as other factors. The SMOC2 genotype therefore provides <strong>no reliable prediction of an individual dog's muzzle length or the degree of brachycephaly<\/strong>. Likewise, the test result does <strong>not allow an individual risk of BOAS or other brachycephaly-associated disorders<\/strong> to be determined.<\/p>  <p>For a well-founded breeding decision, the genetic result should therefore always be considered together with the dog's actual phenotype and functional assessment.<\/p><\/p><\/details><\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":5,"featured_media":0,"parent":271606,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-292143","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/labogen.com\/fi\/wp-json\/wp\/v2\/pages\/292143","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labogen.com\/fi\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/labogen.com\/fi\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/labogen.com\/fi\/wp-json\/wp\/v2\/users\/5"}],"replies":[{"embeddable":true,"href":"https:\/\/labogen.com\/fi\/wp-json\/wp\/v2\/comments?post=292143"}],"version-history":[{"count":0,"href":"https:\/\/labogen.com\/fi\/wp-json\/wp\/v2\/pages\/292143\/revisions"}],"up":[{"embeddable":true,"href":"https:\/\/labogen.com\/fi\/wp-json\/wp\/v2\/pages\/271606"}],"wp:attachment":[{"href":"https:\/\/labogen.com\/fi\/wp-json\/wp\/v2\/media?parent=292143"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}