Cdk13-/- Mice Exhibit Developmental Delay and Craniofacial
Malformations during Embryonic Development

a 2019

Cdk13-/- Mice Exhibit Developmental Delay and Craniofacial Malformations during Embryonic Development

HAMPL, Marek; M. NOVAKOVA; M. KAVKOVA; T. ZIKMUND; J. KOHOUTEK et al.

Základní údaje

Originální název

Cdk13-/- Mice Exhibit Developmental Delay and Craniofacial Malformations during Embryonic Development

Autoři

HAMPL, Marek; M. NOVAKOVA; M. KAVKOVA; T. ZIKMUND; J. KOHOUTEK; J. KAISER a marcela BUCHTOVÁ

Vydání

2019

Další údaje

Jazyk

angličtina

Typ výsledku

Konferenční abstrakt

Obor

30106 Anatomy and morphology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14310/19:00108283

Organizační jednotka

Přírodovědecká fakulta

ISSN

UT WoS

000470768500399

Klíčová slova anglicky

Cyclin-dependent kinase

Štítky

rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 21. 4. 2020 16:30, Mgr. Marie Novosadová Šípková, DiS.

Anotace

V originále

Cyclin-dependent kinase 13 (CDK13) belongs to the family of transcription regulating kinases. Together with its binding partners, cyclin K or L, they form a complex which regulates phosphorylation of RNA Polymerase II, or control alternative splicing. Large numbers of different mutations of this gene cause various developmental defects. In humans, these mutations cause developmental delay, intellectual disability, autism, seizures, facial dysmorphisms, structural heart, brain and digital abnormalities. Our mouse strain with mutation in Cdk13 gene has very similar phenotypic manifestations including developmental delay, craniofacial and heart abnormalities, plus defects in kidney morphology. The aim of this study is to precisely describe morphological changes in the craniofacial region of Cdk13-/- embryos and to reveal what cellular and molecular processes are responsible for these changes. According to macroscopic and microscopic analysis, the most obvious morphological differences between wild type and mutat embryos in the craniofacial region are a generally smaller head, cleft palate and smaller and dysmorphic incisor tooth germs. Alizarin red and Alcian blue staining showed differences in morphology of bones and cartilages of the head between wild type and mutant embryos. For deeper analysis of bones and teeth, we performed muCTscanning. Analyses were performed on embryos from E11.5 to E16.5. Precursor cells normally migrate along the axons to their final destination in order to differentiate and form a specific tissue or can serve there as a source for eventual renewal. Our goal is to reveal whether migration of craniofacial-forming cells is impeded if axonal outgrowth in Cdk13 mutants is defective. CDK13 is known to be responsible for axon outgrowth in vitro. This hypothesis will be verified using IHC on slides and on wholemount embryos, and on PCR arrays specific for mouse neurogenesis markers.

Návaznosti

GA17-14886S, projekt VaV

Název: Molekulární a buněčná dynamika rozhraní zubu a kosti u modelových druhů s akrodontní, pleurodontní a tekodontní denticí

Investor: Grantová agentura ČR, Molekulární a buněčná dynamika rozhraní zubu a kosti u modelových druhů s akrodontní, pleurodontní a tekodontní denticí

Citovat

HAMPL, Marek; M. NOVAKOVA; M. KAVKOVA; T. ZIKMUND; J. KOHOUTEK; J. KAISER a marcela BUCHTOVÁ. Cdk13-/- Mice Exhibit Developmental Delay and Craniofacial Malformations during Embryonic Development. 2019. ISSN 1097-4687.

@proceedings{1648077,
   author = {Hampl, Marek and Novakova, M. and Kavkova, M. and Zikmund, T. and Kohoutek, J. and Kaiser, J. and Buchtová, marcela},
   keywords = {Cyclin-dependent kinase},
   language = {eng},
   title = {Cdk13-/- Mice Exhibit Developmental Delay and Craniofacial Malformations during Embryonic Development},
   year = {2019}
}

TY  - CONF
ID  - 1648077
AU  - Hampl, Marek - Novakova, M. - Kavkova, M. - Zikmund, T. - Kohoutek, J. - Kaiser, J. - Buchtová, marcela
PY  - 2019
TI  - Cdk13-/- Mice Exhibit Developmental Delay and Craniofacial Malformations during Embryonic Development
KW  - Cyclin-dependent kinase
N2  - Cyclin-dependent kinase 13 (CDK13) belongs to the family of transcription regulating kinases. Together with its binding partners, cyclin K or L, they form a complex which regulates phosphorylation of RNA Polymerase II, or control alternative splicing. Large numbers of different mutations of this gene cause various developmental defects. In humans, these mutations cause developmental delay, intellectual disability, autism, seizures, facial dysmorphisms, structural heart, brain and digital abnormalities. Our mouse strain with mutation in Cdk13 gene has very similar phenotypic manifestations including developmental delay, craniofacial and heart abnormalities, plus defects in kidney morphology. The aim of this study is to precisely describe morphological changes in the craniofacial region of Cdk13-/- embryos and to reveal what cellular and molecular processes are responsible for these changes. According to macroscopic and microscopic analysis, the most obvious morphological differences between wild type and mutat embryos in the craniofacial region are a generally smaller head, cleft palate and smaller and dysmorphic incisor tooth germs. Alizarin red and Alcian blue staining showed differences in morphology of bones and cartilages of the head between wild type and mutant embryos. For deeper analysis of bones and teeth, we performed muCTscanning. Analyses were performed on embryos from E11.5 to E16.5. Precursor cells normally migrate along the axons to their final destination in order to differentiate and form a specific tissue or can serve there as a source for eventual renewal. Our goal is to reveal whether migration of craniofacial-forming cells is impeded if axonal outgrowth in Cdk13 mutants is defective. CDK13 is known to be responsible for axon outgrowth in vitro. This hypothesis will be verified using IHC on slides and on wholemount embryos, and on PCR arrays specific for mouse neurogenesis markers.
ER  -

HAMPL, Marek; M. NOVAKOVA; M. KAVKOVA; T. ZIKMUND; J. KOHOUTEK; J. KAISER a marcela BUCHTOVÁ. \textit{Cdk13-/- Mice Exhibit Developmental Delay and Craniofacial Malformations during Embryonic Development}. 2019. ISSN~1097-4687.

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