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.
Similar Posts
The Rho guanine nucleotide exchange factor Trio is required for neural crest cell migration and interacts with Dishevelled
Development 2020 147: dev186338 ABSTRACT: Directional migration during embryogenesis and tumor progression faces the challenge... Read More
Developmental mechanisms driving complex tooth shape in reptiles
BACKGROUND: In mammals, odontogenesis is regulated by transient signaling centers known as enamel knots (EKs),... Read More
The Effect of Foraging on Bumble Bees, Bombus terrestris, Reared under Laboratory Conditions
ABSTRACT: Bumble bees are important pollinators broadly used by farmers in greenhouses and under conditions... Read More
The effects of nano-sized PbO on biomarkers of membrane disruption and DNA damage in a sub-chronic inhalation study on mice
Although the production of engineered nanoparticles increases our knowledge of toxicity and mechanisms of bioactivity... Read More
Lyn Phosphorylates and Controls ROR1 Surface Dynamics During Chemotaxis of CLL Cells
Abstract: Chronic lymphocytic leukemia (CLL) and mantle cell lymphoma (MCL) are malignancies characterized by the... Read More
Conducting composite films based on chitosan or sodium hyaluronate. Properties and cytocompatibility with human induced pluripotent stem cells
Abstract: Novel composite films combining biocompatible polysaccharides with conducting polyaniline (PANI) were prepared via the... Read More