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Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13
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SYSNO ASEP 0507694 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13 Author(s) Nováková, M. (CZ)
Hampl, Marek (UZFG-Y) ORCID
Vrábel, D. (CZ)
Procházka, Jan (UMG-J) ORCID
Petrezselyová, Silvia (UMG-J)
Procházková, Michaela (UMG-J)
Sedláček, Radislav (UMG-J) RID
Kavková, M. (CZ)
Zikmund, T. (CZ)
Kaiser, J. (CZ)
Hsien-Chia, J. (TW)
Ming-Ji, F. (TW)
Buchtová, Marcela (UZFG-Y) RID, ORCID
Kohoutek, J. (CZ)Article number UNSP 155 Source Title Frontiers in Cell and Developmental Biology. - : Frontiers Research Foundation - ISSN 2296-634X
Roč. 7, AUG 7 (2019)Number of pages 19 s. Publication form Online - E Language eng - English Country CH - Switzerland Keywords cyclin-dependent kinase (CDK) ; cyclin ; transcription regulation ; development ; mouse ; cyclin-dependent kinase 13 ; cyclin K Subject RIV EB - Genetics ; Molecular Biology OECD category Developmental biology R&D Projects EF15_003/0000460 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) LM2015040 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) LQ1604 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) EF16_013/0001789 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) ED1.1.00/02.0109 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) ED2.1.00/19.0395 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) GA17-14886S GA ČR - Czech Science Foundation (CSF) Method of publishing Open access Institutional support UZFG-Y - RVO:67985904 ; UMG-J - RVO:68378050 UT WOS 000479254500001 DOI 10.3389/fcell.2019.00155 Annotation 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 (KO) allele in Cdk13 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 observed in patients with mutated CDK13. In particular, overall developmental delay, incomplete secondary palate formation with variability in severity among Cdk13-deficient animals or complete midline deficiency, kidney failure accompanied by congenital heart defects were detected. Based on further analyses, the lethality at this stage is a result of heart failure most likely due to multiple heart defects followed by insufficient blood circulation resulting in multiple organs dysfunctions. Thus, Cdk13 KO mice might be a very useful model for further studies focused on delineating signaling circuits and molecular mechanisms underlying CHDFIDD caused by mutation in CDK13 gene. Workplace Institute of Animal Physiology and Genetics Contact Jana Zásmětová, knihovna@iapg.cas.cz, Tel.: 315 639 554 Year of Publishing 2020 Electronic address https://www.frontiersin.org/articles/10.3389/fcell.2019.00155/full
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