| Mutant 2025-003-LA exhibits heterotaxy with dextrocardia, left aortic arch (LAA), and transposition of the great arteries (TGA) | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| Mutant 2025-003-LA shows heterotaxy with dextrocardia with transposition of the great arteries (TGA), left liver isomerism (2R/2L), and normal lung lobation (3R/2L) | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| EFIC Summary | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| Serial 2D EFIC image stack in the coronal plane of 2025-003-LA shows dextrocardia, TGA and AVSD {I,L,L} Click thumbnail to play movie. | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| Mutant 2025-003-LA shows heterotaxy with dextrogastria | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| Mutant 2025-003-LA has immotile tracheal airway cilia Click thumbnail to play movie. | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| Mutant 2025-005-1 (E14.5) exhibits abnormally positioned heart with superior-inferior positioning of ventricles | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| Mutant 2025-005-1 (E14.5) exhibits heterotaxy with mesocardia and dextrogastria | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| EFIC Summary | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| Serial 2D EFIC image stack in the coronal plane of 2025-005-1 (E14.5) shows superior inferior ventricles, DORV, AVSD, mVSD, RAA, aberrant left subclavian artery forming incomplete vascular ring, dual IVC, and right atrial isomerism Click thumbnail to play movie. | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| Color flow spectral Doppler penetration is not very good. Imaging of mutant 2025-005-1 (E14.5) in the sagittal view shows two great arteries originating from RV primarily, suggesting DORV Click thumbnail to play movie. | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| Mutant 2025-003-1 (E15.5) exhibits levocardia with malalignment of the great arteries with abnormal aortic arch shown by EFIC histology to comprise of an interruption between right brachiocephalic artery and left carotid artery with neck artery branching pattern remaining left sided. Also diagnosed as non-compaction by EFIC. | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| Mutant 2025-003-1 (E15.5) exhibits heterotaxy with levocardia and dextrogastria | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| Mutant 2025-003-1 (E15.5) exhibits heterotaxy with dextrogastria, right-sided pancreas, and asplenia | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| EFIC Summary | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| Serial EFIC image stack in coronal plane of mutant 2025-003-1 (E15.5) shows DORV, unbalanced AVSD {S,D,D}, IAA (type C), bicuspid aortic valve, small LV, ventricular non-compaction, and left atrial isomerism Click thumbnail to play movie. | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| Mutant 2025-005-3 (E14.5) is diagnosed with heterotaxy with dextroversion, left lung isomerism (1R/1L) and overriding aorta which is confirmed by EFIC | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| EFIC Summary | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| Serial 2D EFIC image stack in the coronal plane of 2025-005-3 (E14.5) shows AVSD, mVSD, incomplete vascular ring, azygous venous connection, right and left hepatic vein connection to atrium (A,D,D}, and left lung isomerism Click thumbnail to play movie. | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| Mutant 2025-005-3 (E14.5) exhibits heterotaxy with dextroversion and hypoplastic thymus | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
Ccdc39b2b2025.1Clo/Ccdc39b2b2025.1Clo | C57BL/6J-Ccdc39b2b2025.1Clo |
| Mutant 2025-007-1 (E16.5) presents with malaligned great arteries, right aortic arch (RAA), and hypoplastic pulmonary artery | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
b2b2025.2Clo/b2b2025.2Clo | C57BL/6J-b2b2025.2Clo |
| EFIC Summary | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
b2b2025.2Clo/b2b2025.2Clo | C57BL/6J-b2b2025.2Clo |
| Serial EFIC image stack in coronal plane of mutant 2025-007-1 (E16.5) shows DORV, AVSD, RAA, RV non-compaction, hypoplastic PA, aberrant left subclavian artery forming incomplete vascular ring Click thumbnail to play movie. | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
b2b2025.2Clo/b2b2025.2Clo | C57BL/6J-b2b2025.2Clo |
| Mutant 2025-007-1 (E16.5) has micropthalmia of the right eye | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
b2b2025.2Clo/b2b2025.2Clo | C57BL/6J-b2b2025.2Clo |
| Mutant 2025-007-1 (E16.5) exhibits an abnormal patterning on the ventricles which is diagnosed as ventricular non-compaction by EFIC imaging | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
b2b2025.2Clo/b2b2025.2Clo | C57BL/6J-b2b2025.2Clo |
| Mutant 2025-007-2 (E16.5) exhibits malaligned great arteries shown to be double outlet right ventricle (DORV) by EFIC imaging | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
b2b2025.2Clo/b2b2025.2Clo | C57BL/6J-b2b2025.2Clo |
| EFIC Summary | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
b2b2025.2Clo/b2b2025.2Clo | C57BL/6J-b2b2025.2Clo |
| Serial EFIC image stack in coronal plane of 2025-007-2 (E16.5) shows DORV, AVSD, spongy ventricles, aberrant right subclavian artery forming incomplete vascular ring Click thumbnail to play movie. | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
b2b2025.2Clo/b2b2025.2Clo | C57BL/6J-b2b2025.2Clo |
| Color flow spectral Doppler imaging of mutant 2025-007-2 (E16.5) in the frontal view shows AO and PA originate from RV | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
b2b2025.2Clo/b2b2025.2Clo | C57BL/6J-b2b2025.2Clo |
| Color flow spectral Doppler imaging of mutant 2025-007-2 (E16.5) in the transverse view shows AVSD | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
b2b2025.2Clo/b2b2025.2Clo | C57BL/6J-b2b2025.2Clo |
| Mutant 2025-007-2 (E16.5) has syndactyly of the right forelimb and micropthalmia of the right eye | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
b2b2025.2Clo/b2b2025.2Clo | C57BL/6J-b2b2025.2Clo |
| Mutant 2025-007-2 (E16.5) has micropthalmia | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
b2b2025.2Clo/b2b2025.2Clo | C57BL/6J-b2b2025.2Clo |
| Mutant 2025-007-2 exhibits a duplex left kidney with two ureters. There are a few glomerular cysts in both kidneys and some minor dilations of a few tubules | b2b2025Clo/b2b2025Clo | C57BL/6J-b2b2025Clo |
b2b2025.2Clo/b2b2025.2Clo | C57BL/6J-b2b2025.2Clo |