{"id":2440,"date":"2019-08-09T10:24:45","date_gmt":"2019-08-09T10:24:45","guid":{"rendered":"http:\/\/www.sci.muni.cz\/ofiz\/?p=2440"},"modified":"2019-10-22T09:42:57","modified_gmt":"2019-10-22T09:42:57","slug":"mouse-model-of-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders-as-a-result-of-non-functional-cdk13","status":"publish","type":"post","link":"https:\/\/ueb1.sci.muni.cz\/ofiz\/mouse-model-of-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders-as-a-result-of-non-functional-cdk13\/","title":{"rendered":"Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13"},"content":{"rendered":"\n

Congenital heart defects, dysmorphic facial features and intellectual developmental<\/g> disorders (CHDFIDD) syndrome in humans was<\/g> recently associated with mutation<\/g> in CDK13<\/em> gene. In order to assess the loss<\/g> of function of Cdk13 during mouse development, we employed gene trap<\/g> knock-out (KO) allele in Cdk13<\/em> gene. Embryonic lethality of Cdk13-deficient animals was observed by the embryonic day (E) 16.5, while live embryos were observed on E15.5. At this stage, improper development of multiple organs has been documented, partly resembling defects<\/g> observed in patients with mutated CDK13. In particular, overall developmental<\/g> delay, incomplete secondary palate formation with variability<\/g> in severity among Cdk13-deficient animals or complete midline<\/g> deficiency, kidney failure accompanied by congenital heart defects<\/g> were detected. Based on further analyses, the lethality at this stage<\/g> is a result of heart failure most likely due to multiple heart defects<\/g> followed by insufficient blood circulation resulting in multiple organs<\/g> dysfunctions. Thus, Cdk13 KO mice might be a very useful model for<\/g> further studies focused on delineating signaling circuits and molecular<\/g> mechanisms underlying CHDFIDD caused by mutation<\/g> in CDK13<\/em> gene. <\/p>\n\n\n\n

V\u00edce informac\u00ed<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Congenital heart defects, dysmorphic facial features and intellectual developmental disorders (CHDFIDD) syndrome in humans was recently associated with mutation in CDK13 gene. In order to assess the loss of function of Cdk13 during mouse development, we employed gene trap knock-out … Read More<\/a><\/p>\n","protected":false},"author":5,"featured_media":2441,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"kt_blocks_editor_width":"","_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[252],"tags":[307],"class_list":["post-2440","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-nova-publikace","tag-buchtova-lab"],"yoast_head":"\nMouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13 - Department of Animal Physiology and Immunology<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ueb1.sci.muni.cz\/ofiz\/mouse-model-of-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders-as-a-result-of-non-functional-cdk13\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13 - Department of Animal Physiology and Immunology\" \/>\n<meta property=\"og:description\" content=\"Congenital heart defects, dysmorphic facial features and intellectual developmental disorders (CHDFIDD) syndrome in humans was recently associated with mutation in CDK13 gene. In order to assess the loss of function of Cdk13 during mouse development, we employed gene trap knock-out … Read More\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ueb1.sci.muni.cz\/ofiz\/mouse-model-of-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders-as-a-result-of-non-functional-cdk13\/\" \/>\n<meta property=\"og:site_name\" content=\"Department of Animal Physiology and Immunology\" \/>\n<meta property=\"article:published_time\" content=\"2019-08-09T10:24:45+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2019-10-22T09:42:57+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/ueb1.sci.muni.cz\/ofiz\/wp-content\/uploads\/2019\/08\/Marcipub.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1127\" \/>\n\t<meta property=\"og:image:height\" content=\"579\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"Lucie Nesvadbov\u00e1\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Lucie Nesvadbov\u00e1\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/ueb1.sci.muni.cz\/ofiz\/mouse-model-of-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders-as-a-result-of-non-functional-cdk13\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/ueb1.sci.muni.cz\/ofiz\/mouse-model-of-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders-as-a-result-of-non-functional-cdk13\/\"},\"author\":{\"name\":\"Lucie Nesvadbov\u00e1\",\"@id\":\"https:\/\/ueb1.sci.muni.cz\/ofiz\/#\/schema\/person\/3119766c8e4c78f08bbbde220469aee6\"},\"headline\":\"Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13\",\"datePublished\":\"2019-08-09T10:24:45+00:00\",\"dateModified\":\"2019-10-22T09:42:57+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/ueb1.sci.muni.cz\/ofiz\/mouse-model-of-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders-as-a-result-of-non-functional-cdk13\/\"},\"wordCount\":198,\"publisher\":{\"@id\":\"https:\/\/ueb1.sci.muni.cz\/ofiz\/#organization\"},\"image\":{\"@id\":\"https:\/\/ueb1.sci.muni.cz\/ofiz\/mouse-model-of-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders-as-a-result-of-non-functional-cdk13\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/ueb1.sci.muni.cz\/ofiz\/wp-content\/uploads\/2019\/08\/Marcipub.png\",\"keywords\":[\"Buchtova lab\"],\"articleSection\":[\"Nov\u00e1 publikace\"],\"inLanguage\":\"en-US\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/ueb1.sci.muni.cz\/ofiz\/mouse-model-of-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders-as-a-result-of-non-functional-cdk13\/\",\"url\":\"https:\/\/ueb1.sci.muni.cz\/ofiz\/mouse-model-of-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders-as-a-result-of-non-functional-cdk13\/\",\"name\":\"Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13 - 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