This Ccdc39 mutation was identified in a screen of ENU-induced mutations and may be useful in studies of Kartagener syndrome and primary ciliary dyskinesia.
The Jackson Laboratory cannot guarantee that cryorecovery of G1 sperm from the Bench to Bassinet (B2B) collection will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.
Cecilia Lo, Univ of Pittsburgh School of Medicine
This T-to-A point mutation at position 2 of the Ccdc39 (coiled-coil domain containing 39) cDNA was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate cardiovascular defects that involve dextrocardia seen as part of situs inversus totalis. Kidney defects with cysts and hydronephrosis and immotile tracheal airway cilia are also seen. This strain may be a model for Kartagener syndrome and primary ciliary dyskinesia.
This ENU-induced mutation was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. A T-to-A single point mutation at position 2 of the cDNA (c.T2A, NM_026222) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause a methionine to lysine amino acid substitution at position 1 of the encoded protein (p.M1K).
|Allele Name||Bench to Bassinet Program (B2B/CvDC) mutation 1304, Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Ccdc39, coiled-coil domain containing 39|
|Strain of Origin||C57BL/6J|
|General Note||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