CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD) is associated with mutations in the CDK13 gene encoding transcription-regulating cyclin-dependent kinase 13 (CDK13). Here, we focused on the development of craniofacial structures and analyzed early embryonic stages in CHDFIDD mouse models, with one model comprising a hypomorphic mutation in Cdk13 and exhibiting cleft lip/palate, and another model comprising knockout of Cdk13, featuring a stronger phenotype including midfacial cleft. Cdk13 was found to be physiologically expressed at high levels in the mouse embryonic craniofacial structures, namely in the forebrain, nasal epithelium and maxillary mesenchyme. We also uncovered that Cdk13 deficiency leads to development of hypoplastic branches of the trigeminal nerve including the maxillary branch. Additionally, we detected significant changes in the expression levels of genes involved in neurogenesis (Ache, Dcx, Mef2c, Neurog1, Ntn1, Pou4f1) within the developing palatal shelves. These results, together with changes in the expression pattern of other key face-specific genes (Fgf8, Foxd1, Msx1, Meis2 and Shh) at early stages in Cdk13 mutant embryos, demonstrate a key role of CDK13 in the regulation of craniofacial morphogenesis.

• Klíčová slova
• Axons, CDK13, Craniofacial development, Neurite outgrowth, Orofacial clefts, Trigeminal ganglion,
• MeSH
• cyklin-dependentní kinasy metabolismus   genetika   MeSH
• embryo savčí metabolismus   MeSH
• embryonální vývoj * genetika   MeSH
• fenotyp MeSH
• lebka embryologie   patologie   MeSH
• mentální retardace genetika   MeSH
• modely nemocí na zvířatech * MeSH
• mutace genetika   MeSH
• myši MeSH
• nervus trigeminus embryologie   MeSH
• neurogeneze * genetika   MeSH
• obličej embryologie   abnormality   MeSH
• protein doublecortin MeSH
• rozštěp patra genetika   patologie   embryologie   MeSH
• rozštěp rtu genetika   patologie   embryologie   MeSH
• vývojová regulace genové exprese * MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• cyklin-dependentní kinasy MeSH
• Dcx protein, mouse MeSH Prohlížeč
• protein doublecortin MeSH

The Hindbrain Choroid Plexus is a complex, cerebrospinal fluid-secreting tissue that projects into the 4th vertebrate brain ventricle. Despite its irreplaceability in the development and homeostasis of the entire central nervous system, the research of Hindbrain Choroid Plexus and other Choroid Plexuses has been neglected by neuroscientists for decades. One of the obstacles is the lack of tools that describe the complex shape of the Hindbrain Choroid Plexus in the context of brain ventricles. Here we introduce an effective tool, termed ChOP-CT, for the noninvasive, X-ray micro-computed tomography-based, three-dimensional visualization and subsequent quantitative spatial morphological analysis of developing mouse Hindbrain Choroid Plexus. ChOP-CT can reliably quantify Hindbrain Choroid Plexus volume, surface area, length, outgrowth angle, the proportion of the ventricular space occupied, asymmetries and general shape alterations in mouse embryos from embryonic day 13.5 onwards. We provide evidence that ChOP-CT is suitable for the unbiased evaluation and detection of the Hindbrain Choroid Plexus alterations within various mutant embryos. We believe, that thanks to its versatility, quantitative nature and the possibility of automation, ChOP-CT will facilitate the analysis of the Hindbrain Choroid Plexus in the mouse models. This will ultimately accelerate the screening of the candidate genes and mechanisms involved in the onset of various Hindbrain Choroid Plexus-related diseases.

• Klíčová slova
• 3D visualization, Hindbrain choroid plexus, Morphometrics, X-ray micro-computed tomography,
• MeSH
• mozek MeSH
• mozkové komory * MeSH
• myši MeSH
• plexus chorioideus * diagnostické zobrazování   MeSH
• rentgenová mikrotomografie MeSH
• rombencefalon diagnostické zobrazování   MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

Amyloid plaques are small (~ 50 μm), highly-dense aggregates of amyloid beta (Aβ) protein in brain tissue, supposed to play a key role in pathogenesis of Alzheimer's disease (AD). Plaques´ in vivo detection, spatial distribution and quantitative characterization could be an essential marker in diagnostics and evaluation of AD progress. However, current imaging methods in clinics possess substantial limits in sensitivity towards Aβ plaques to play a considerable role in AD screening. Contrast enhanced X-ray micro computed tomography (micro CT) is an emerging highly sensitive imaging technique capable of high resolution visualization of rodent brain. In this study we show the absorption based contrast enhanced X-ray micro CT imaging is viable method for detection and 3D analysis of Aβ plaques in transgenic rodent models of Alzheimer's disease. Using iodine contrasted brain tissue isolated from the Tg-F344-AD rat model we show the micro CT imaging is capable of precise imaging of Aβ plaques, making possible to further analyze various aspects of their 3D spatial distribution and other properties.

• MeSH
• Alzheimerova nemoc diagnostické zobrazování   metabolismus   patologie   MeSH
• amyloidní beta-protein metabolismus   MeSH
• amyloidní plaky diagnostické zobrazování   metabolismus   patologie   MeSH
• biologické markery MeSH
• kontrastní látky * MeSH
• krysa rodu Rattus MeSH
• modely nemocí na zvířatech MeSH
• mozek diagnostické zobrazování   metabolismus   patologie   MeSH
• počítačové zpracování obrazu MeSH
• rentgenová mikrotomografie * MeSH
• vylepšení rentgenového snímku * MeSH
• zobrazování trojrozměrné MeSH
• zvířata MeSH
• Check Tag
• krysa rodu Rattus MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• amyloidní beta-protein MeSH
• biologické markery MeSH
• kontrastní látky * MeSH