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Ccdc39b2b1735Clo
Chemically induced Allele Detail
Nomenclature
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.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation details
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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
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

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
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. 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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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory