Ccdc39^b2b2025.1Clo
Chemically induced Allele Detail

Summary

• Symbol: Ccdc39^b2b2025.1Clo
• 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: Chr3:33866511-33898459 bp, - strand Genetic Position: Chr3, 16.32 cM
• Alliance: Ccdc39^b2b2025.1Clo page

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.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This 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 substitution at coding nucleotide position 445 (c.445G>T) in exon 4 of the cDNA (c.445G>T). This changes the glutamic acid residue to a stop at position 149 of the expressed protein (p.E149*). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ccdc39^b2b2025.1Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

12 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ccdc39 Mutation: 91 strains or lines available

Notes

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

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

References

• 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). 2011-09-12
• All: 2 reference(s)