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Chemically induced Allele Detail
Symbol: Ccdc39b2b1735Clo
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: Ccdc39b2b1735Clo 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.

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. 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, Ccdc39b2b1735Clo, and may be present in stocks carrying this mutation.
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 5 anatomical structures
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:  70 strains or lines available
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

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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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