Ccdc39^b2b1304Clo
Chemically induced Allele Detail

Summary

• Symbol: Ccdc39^b2b1304Clo
• 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: Ccdc39^b2b1304Clo 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.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This 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, Ccdc39^b2b1304Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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: 91 strains or lines available

Notes

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

References

• 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)