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Related Concept Videos

Neurulation01:30

Neurulation

Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the anterior...
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During embryogenesis, cells become progressively committed to different fates through a two-step process: specification followed by determination. Specification is demonstrated by removing a segment of an early embryo, “neutrally” culturing the tissue in vitro—for example, in a petri dish with simple medium—and then observing the derivatives. If the cultured region gives rise to cell types that it would normally generate in the embryo, this means that it is specified. In contrast, determination...
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Regulation of Angiogenesis and Blood Supply

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Related Experiment Video

Updated: Jun 5, 2026

Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos
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Multi-Photon Time Lapse Imaging to Visualize Development in Real-time: Visualization of Migrating Neural Crest Cells in Zebrafish Embryos

Published on: August 9, 2017

Pax3, neural crest and cardiovascular development.

J A Epstein1

  • 1Jonathan A. Epstein is at the Division of Cardiology, Hospital of the University of Pennsylvania,Philadelphia, PA 19104,USA.

Trends in Cardiovascular Medicine
|January 15, 2011
PubMed
Summary
This summary is machine-generated.

Mutations in the Pax-3 gene cause embryonic lethality in mice, leading to cardiovascular abnormalities similar to human DiGeorge syndrome. This highlights Pax-3

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Area of Science:

  • Developmental biology
  • Molecular genetics
  • Cardiovascular science

Background:

  • Cardiovascular development understanding is shifting from descriptive anatomy to molecular mechanisms.
  • Molecular genetics tools identify gene defects causing cardiovascular abnormalities.
  • Specific gene defects underlie cardiovascular derangements in mouse models.

Purpose of the Study:

  • To investigate the genetic basis of cardiovascular abnormalities in the Splotch mouse mutant.
  • To understand the role of the Pax-3 gene in cardiac morphogenesis and neural crest development.

Main Methods:

  • Analysis of the Splotch mouse mutant, a model with a known genetic defect.
  • Studying homozygous Pax-3 mutations and their effects on embryonic development.
  • Comparing embryonic phenotypes with human congenital heart defects.

Main Results:

  • The Splotch mouse mutation is caused by defects in the Pax-3 gene.
  • Homozygous Pax-3 mutations lead to embryonic lethality around E13.5.
  • Embryos exhibit cardiac outflow tract defects (DORV, PTA) and great vessel abnormalities, resembling human DiGeorge syndrome.
  • Associated abnormalities include thyroid and parathyroid gland defects, suggesting neural crest involvement.

Conclusions:

  • Pax-3 is crucial for normal cardiovascular development and neural crest contribution to the heart.
  • The Splotch mouse model provides insights into the molecular etiology of DiGeorge syndrome-like cardiovascular defects.
  • Understanding Pax-3 function is key to unraveling complex congenital heart disease mechanisms.