Related Experiment Videos
Cardiopulmonary malformations in the inv/inv mouse
T C McQuinn1, D E Miga, C H Mjaatvedt
1Department of Cell Biology and Anatomy, Cardiovascular Developmental Biology Center, Medical University of South Carolina, Charleston, South Carolina, USA.
The Anatomical Record
|May 2, 2001
Summary
The inv/inv mouse model reveals significant cardiopulmonary abnormalities, including outflow tract defects, independent of embryonic turning (situs) determination. These findings highlight inversin
Area of Science:
- Developmental Biology
- Genetics
- Cardiology
Background:
- The inv/inv mouse model possesses an insertional mutation in the inversin gene, previously linked to near-complete situs inversus totalis.
- Understanding the spectrum of cardiopulmonary abnormalities in inv/inv mice is crucial for comparing them to human situs abnormalities.
Purpose of the Study:
- To identify and characterize the range of cardiopulmonary anatomical abnormalities in inv/inv mice that survive to birth.
- To determine if the observed abnormalities align with those typically seen in human situs abnormalities and heterotaxia.
Main Methods:
- Histological examination of stillborn, unexpectedly deceased, and neonate inv/inv mice exhibiting situs inversus phenotypes.
- Genotyping of examined neonates to confirm the inv/inv genotype.
- Analysis of cardiac and pulmonary anatomy in confirmed inv/inv specimens.
Main Results:
- Out of 27 genotyped inv/inv mice, 37% exhibited cardiovascular anomalies.
- A complex of pulmonary infundibular stenosis/atresia, absent pulmonary valve, and ventricular septal defect was the most frequent severe malformation (11%).
- Three inv/inv mice (11%) displayed situs solitus but had cardiac anomalies similar to those with situs inversus.
Conclusions:
- Cardiopulmonary malformations are common (37%) in inv/inv mice and are not typical of human heterotaxia.
- inv/inv mice show a predisposition to right ventricular outflow tract and interventricular septum defects.
- Inversin may play a role in cardiac morphogenesis independent of its role in determining embryonic turning (situs).