Ccdc39^b2b1735Clo
Chemically induced Allele Detail

Summary

• Symbol: Ccdc39^b2b1735Clo
• Name: coiled-coil domain containing 39; Bench to Bassinet Program (B2B/CVDC) mutation 1735, Cecilia Lo
• MGI ID: MGI:5438066
• Synonyms: Gonzo
• Gene: Ccdc39 Location: Chr3:33866511-33898459 bp, - strand Genetic Position: Chr3, 16.32 cM
• Alliance: Ccdc39^b2b1735Clo page

Mutant 1735-003-1 (E 15.5) displays dextrocardia and malpositioning of the atria and outflow tract with left pulmonary isomerism

Show the 13 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. The molecular lesion is a T to A substitution at nucleotide +2 following coding nucleotide 357 (c.357+2T>A, NM_026222) in intron 3, changing splice donor site A-GT to A-GA (wich is assumed to be much less efficient or inactive). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ccdc39^b2b1735Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

6 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:
Cardiac phenotype: Cardiovascular phenotype: Dextrocardia and complex congenital heart defects associated with heterotaxy, including double outlet right ventricle (DORV) with atrioventricular septal defect (AVSD), and vascular ring. Also observed are mutants with situs inversus totalis without congenital heart defects
Non-Cardiac phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria and left lung isomerism. Also observed were micrognathia, short snout, and immotile airway cilia

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
0100	Situs inversus totalis
0110	Dextrocardia
0190	Heterotaxy syndrome
0600	Double outlet right ventricle
2050	Atrial septal defect
2760	Vascular ring
3804	Congenital heart disease
3816	Abdominal situs inversus
3817	Abdominal situs ambiguous (abdominal heterotaxy)
4163	Micrognathia
4239	Left bronchial isomerism
4851	Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality

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)