This Ccdc39 mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease.
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
A T-to-A point mutation in 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 complex congenital heart disease (CHD) associated with heterotaxy such as double outlet right ventricle (DORV) with atrioventricular septal defect (AVSD), and dextrocardia associated with situs inversus totalis. Immotile airway cilia are also seen.
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 substitution at nucleotide +2 of an intron following nucleotide 357 of the cDNA (c.357+2T>A, NM_026222) was discovered through whole exome, high throughput sequencing. This mutation is presumed to be a splicing mutation.
|Allele Name||Bench to Bassinet Program (B2B/CVDC) mutation 1735, 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:|
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