This mutation was derived from the parent line b2b370Clo.

Summative Diagnosis:
Cardiovascular defects: Supravalvular aortic stenosis (narrowed ascending aorta), Thickened great artery walls, Biventricular hypertrophy, and Pulmonary artery branch stenosis.
Non-cardiac defects: diaphragmatic hernia

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID Code Description
1430 Aortic stenosis - supravalvar
1617 Pulmonary stenosis, bilateral branch pulmonary artery
2600 Systemic artery anomaly
2700 Abnormal aortic arch
3608 Left ventricular hypertrophy
3609 Right ventricular hypertrophy
3804 Congenital heart disease
4031 Williams sydrome
4907 Non-cardiac thoracic abnormality