ArticleHuman molecular genetics2010
Genome-wide identification of mouse congenital heart disease loci.
Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 19 citations in OpenAlex.
- Identifying links between cardiovascular disease and insomnia by modeling genes from a pleiotropic locus.Disease models & mechanisms · 2025Article
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- The arginine methyltransferase Carm1 is necessary for heart development.G3 (Bethesda, Md.) · 2022Article
- In vivo identification and validation of novel potential predictors for human cardiovascular diseases.PloS one · 2021Article
- Live mechanistic assessment of localized cardiac pumping in mammalian tubular embryonic heart.Journal of biomedical optics · 2020Article
- Some Isolated Cardiac Malformations Can Be Related to Laterality Defects.Journal of cardiovascular development and disease · 2018Review
- Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.Human molecular genetics · 2016Article
- De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.PLoS genetics · 2016Article
- Complex genetics and the etiology of human congenital heart disease.Cold Spring Harbor perspectives in medicine · 2014Review
- Article
- Interrogating congenital heart defects with noninvasive fetal echocardiography in a mouse forward genetic screen.Circulation. Cardiovascular imaging · 2014Article
- Article
- Partitioning the heart: mechanisms of cardiac septation and valve development.Development (Cambridge, England) · 2012Review
- A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus.Human molecular genetics · 2011Article
- Complex interactions between genes controlling trafficking in primary cilia.Nature genetics · 2011Article
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Authors and funding
12 authors at 6 institutions in 2 countries.
Funding
Abstract
Empirical evidence supporting a genetic basis for the etiology of congenital heart disease (CHD) is limited and few disease-causing mutations have been identified. To identify novel CHD genes, we performed a forward genetic screen to identify mutant mouse lines with heritable CHD. Lines with recessive N-ethyl-N-nitrsourea-induced CHD-causing mutations were identified using a three-generation backcross. A hierarchical screening protocol was used to test the hypothesis that the fetal-to-neonatal circulatory transition unmasks the specific structural heart defects observed in CHD. Mice with heart defects were efficiently ascertained by selecting for pups exhibiting perinatal lethality and characterizing their cardiac pathology. A marked increase of perinatal lethality was observed in the mutagen-treated cohort compared with an untreated backcross population. Cardiac pathology on perinatal lethals revealed cardiovascular defects in 79 pups from 47 of 321 mutagenized lines. All identified structural abnormalities were analogous to previously described forms of human CHD. Furthermore, the phenotypic recurrence and variance patterns across all lines were similar to human CHD prevalence and recurrence patterns. We mapped the locus responsible for heritable atrioventricular septal defects in six lines (avc1-6). Our screen demonstrated that 'sporadic' CHD may have major genetic component and established a practical, efficient approach for identifying CHD candidate genes.
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