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Chemically induced Allele Detail
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: Chr3:33866511-33898459 bp, - strand  Genetic Position: Chr3, 16.32 cM
Alliance: Ccdc39b2b1304Clo page
Mutant 1204-006-NC exhibits heterotaxy with dextrocardia, inverted outflow, inverted lung lobation (2R/3L), and dilated venous return

Show the 10 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 coding nucleotide position 2 in exon 1 of the cDNA (c.2T>A, NM_026222). This changes the methionine translation start residue to lysine at position 1 of the encoded protein (p.M1K). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ccdc39b2b1304Clo, 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: 4 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:
Cardiovascular phenotype: Laterality defects including situs inversus totalis and heterotaxy with congenital heart disease: dextrocardia and dilated systemic vein
Noncardiovascular phenotype: Situs inversus totalis, as well as heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as different combinations of malaligned sternal vertebra, hypoplastic spleen, and inverted lung lobation. Also observed were cystic kidneys, hydronephrosis, and immotile tracheal 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
0190 Heterotaxy Syndrome
2800 Systemic venous anomaly
3816 Abdominal situs inversus
4100 Skeletal, skin, muscle anomaly
4502 Hydronephrosis
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:  3 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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last database update
MGI 6.22
The Jackson Laboratory