Summary |
|
|||||||||||||
Mutation origin |
|
|||||||||||||
Mutation description |
|
|||||||||||||
Phenotypes |
View phenotypes and curated references for all genotypes (concatenated display).
|
|||||||||||||
Disease models |
|
|||||||||||||
Expression |
|
|||||||||||||
Find Mice (IMSR) |
|
|||||||||||||
Notes |
Summative Diagnosis:
Cardiovascular phenotype: Situs inversus totalis and heterotaxy with congenital heart disease including dextrocardia, double outlet right ventricle (DORV), atrioventricular septal defects (AVSD), and right atrial isomerism (RAI) Noncardiovascular phenotype: Situs inversus totalis and abnormal thoracic and abdominal organ situs anomalies associated with heterotaxy, such as dextrogastria, left liver isomerism, left lung isomerism, and malaligned sternal vertebra. Airway cilia were immotile |