Summative Diagnosis:
Cardiovascular Phenotype: Mutants can have dextracardia and complex congenital heart defects associated with heterotaxy, such as ambiguous atria (left atrial isomerism), transposition of the great arteries (TGA), overriding aorta/double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), biventricular hypertrophy, and inferior vena cava (IVC) anomalies, including dual inferior vena cava
Noncardiovascular Phenotype: Situs inversus totalis, as well as heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as different combinations with dextrogastria, hypoplastic spleen, left lung isomerism, malaligned sternal vertebras. Kidney cyst and tracheal airway cilia are slow/dyskinetic/immotile.

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
0190 Heterotaxy syndrome
0600 Double outlet right ventricle
0606 DORV + AVSD (AV canal)
0700 D-loop transposition of the great arteries
1100 Atrioventricular canal (endocardial cushion defect)
1432 Overriding aortic valve
2810 Inferior vena cava anomaly
4100 Skeletal, skin, muscle anomaly
4239 Left bronchial isomerism
4508 Polycystic kidney disease
4906 Non-cardiac abnormality
7505 Biventricular hypertrophy