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Chemically induced Allele Detail
Symbol: Ccdc39b2b2025.1Clo
Name: coiled-coil domain containing 39; Bench to Bassinet Program (B2B/CVDC), mutation 2025, subline 1 Cecilia Lo
MGI ID: MGI:5554444
Gene: Ccdc39  Location: Chr3:33812362-33844310 bp, - strand  Genetic Position: Chr3, 16.32 cM
Mutant 2025-003-LA exhibits heterotaxy with dextrocardia, left aortic arch (LAA), and transposition of the great arteries (TGA)

Show the 20 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b2025Clo. The molecular lesion for this subline is attributed to a G-to-T single point mutation (c.G445T) and is predicted to result in the introduction of a stop codon at position 4390 (p.E149X) of the expressed protein. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ccdc39b2b2025.1Clo, and may be present in stocks carrying this mutation.
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Ccdc39 Mutation:  3 strains or lines available
Summative Diagnosis:
Cardiovascular Phenotype: Heterotaxy presenting with dextrocardia/dextroversion and a spectrum of complex congenital heart disease such as superior-inferior ventricles, overriding aorta/double outlet right ventricle (DORV), DORV Taussig Bing subtype, transposition of the great arteries (TGA), atrioventricular septal defect (AVSD), perimembranous and muscular ventricular septal defects (VSD), interrupted aortic arch (IAA), aberrant left subclavian artery forming incomplete vascular ring and dual inferior vena cava (IVC), and right/left atrial isomerism
Noncardiovascular Phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria/midline stomach, hypoplastic spleen/asplenia, left lung isomerism, and midline liver. Airway cilia are immotile

Phenotypic Similarity to Human Syndrome: Heterotaxy, Primary Ciliary Dyskinesia (PCD)

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
0600 Double outlet right ventricle
0606 DORV + AVSD (AV canal)
0610 DORV, Taussig bing
0110 Dextrocardia
0184 Superior-inferior ventricles (upstairs-downstairs ventricles)
0190 Heterotaxy syndrome
0800 L-loop transpostion of the great arteries
1100 Atrioventricular canal (endocardial cushion defect)
1250 Interrupted aortic arch
1300 Ventricular septal defect
1310 Ventricular septal defect, membranous
1320 Ventricular septal defect, muscular
1432 Overriding aortic valve
2700 Abnormal aortic arch
2730 Aberrant left subclavian artery
2760 Vascular ring
2810 Inferior vena cava anomaly
3804 Congenital heart disease
3817 Abdominal situs ambiguous (abdominal heterotaxy)
3950 {S,D,D}
3973 {I,L,L}
3983 {A,D,D}
4239 Left bronchial isomerism
4771 Asplenia

Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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