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Ccdc39b2b1304Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Ccdc39b2b1304Clo
Name: coiled-coil domain containing 39; Bench to Bassinet Program (B2B/CvDC), mutation 1304 Cecilia Lo
MGI ID: MGI:5316786
Gene: Ccdc39  Location: Chr3:33812362-33844310 bp, - strand  Genetic Position: Chr3, 16.32 cM
Complete mirror-image organ situs in situs inversus totalis mutant

Show the 4 image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
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:
Cardiovascular defects: Dextrocardia seen as part of situs inversus totalis.
Non-cardiovascular defects: Kidney defects with cysts and hydronephrosis, immotile tracheal airway cilia.

Phenotypic Similarity to Human Syndrome: Kartagener syndrome, Primary ciliary dyskinesia

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
4502 Hydronephrosis
4508 Polycystic kidney disease

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
04/08/2014
MGI 5.17
The Jackson Laboratory