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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: Chr3:33812362-33844310 bp, - strand  Genetic Position: Chr3, 16.32 cM
Mutant 1735-002-LA displays situs inversus totalis indicated by dextrocardia, reverse lung and liver lobation, and dextrogastria

Show the 11 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 details
View phenotypes for all genotypes (concatenated display).
Disease models
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:  3 strains or lines available
Summative Diagnosis:
Cardiac phenotype: Complex congenital heart disease (CHD) associated with heterotaxy such as double outlet right ventricle (DORV) with atrioventricular septal defect (AVSD), dextrocardia associated with situs inversus totalis
Non-Cardiac phenotype: Immotile airway cilia

Phenotypic Similarity to Human Syndrome: Heterotaxy, Primary Ciliary Dyskinesia, Kartagener's syndrome

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
3804 Congenital heart disease
3988 {A,L,L}
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)

Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. MGI Direct Data Submission (B2B/CvDC). 2011-13;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.19
The Jackson Laboratory