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Related Experiment Videos

Cardiovascular defects associated with abnormalities in midline development in the Loop-tail mouse mutant.

D J Henderson1, S J Conway, N D Greene

  • 1Neural Development Unit, Institute of Child Health, University College London, London UK. dhender@ich.ucl.ac.uk

Circulation Research
|July 7, 2001
PubMed
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The Loop-tail mouse mutant exhibits severe neural tube defects and complex cardiovascular abnormalities, including double-outlet right ventricle and a rare double-sided aortic arch. These cardiac defects appear linked to abnormal heart looping and axial rotation, not neural crest issues.

Area of Science:

  • Developmental biology
  • Cardiovascular science
  • Genetics

Background:

  • The Loop-tail (Lp) mouse mutant is characterized by severe neural tube defects.
  • Congenital heart defects, such as outflow tract anomalies and aortic arch abnormalities, can arise from various developmental disruptions.

Purpose of the Study:

  • To investigate the complex cardiovascular defects in Loop-tail (Lp) mouse homozygotes.
  • To determine the relationship between neural tube defects, heart looping, and aortic arch development in the Lp mutant.

Main Methods:

  • Analysis of Lp/Lp embryos using molecular and anatomical markers.
  • Assessment of neural crest cell migration.
  • Evaluation of heart looping, axial rotation, and cervical flexion.
  • Examination of aortic arch development and associated arteries.

Related Experiment Videos

Main Results:

  • Lp homozygotes display complex cardiovascular defects, including double-outlet right ventricle with perimembranous ventricular septal defects.
  • A rare double-sided aortic arch with associated arterial abnormalities is observed in Lp mutants.
  • Neural crest migration is normal in Lp/Lp embryos, ruling out this as the primary cause of outflow tract defects.
  • Heart looping is abnormal, with a posteromedially shifted ventricular loop, linked to incomplete axial rotation and reduced cervical flexion secondary to neural tube defects.
  • The double-sided aortic arch is suggested to be a primary defect, potentially involving the Lp gene's role in aortic arch system maintenance or regression.

Conclusions:

  • Cardiovascular defects in the Loop-tail mutant are complex and multifactorial.
  • Abnormal heart looping and axial rotation, secondary to neural tube defects, contribute to cardiac alignment issues.
  • The double-sided aortic arch in Lp mutants may represent a primary developmental defect, independent of alignment anomalies, highlighting a potential novel gene function.