This Dnah11 mutation was identified in a screen of ENU-induced mutations and may be useful in studies of heterotaxy, congenital heart disease, and kidney defects.
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 C3184T Dnah11 (dynein, axonemal, heavy chain 11) point mutation 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 laterality defects, including situs inversus totalis, heterotaxy, left pulmonary isomerism and left liver isomerism. Cystic kidney disease, hydronephrosis, and hyperkinetic/dyskinetic 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 C3184T point mutation in the Dnah11 cDNA (Ref seq NM_010060) was discovered through whole exome, high throughput sequencing. This is predicted to alter an arginine residue to an isoleucine at position 1214 (p.Q1062X) in the encoded protein.
|Allele Name||Bench to Bassinet Program (B2B/CVDC) mutation 598, Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Dnah11, dynein, axonemal, heavy chain 11|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis:|
Cardiovascular phenotype: Situs inversus totalis, dextrocardia with muscular ventricular septal defect (VSD), ventricular myocardial non-compaction.
Noncardiovascular phenotype: Situs inversus totalis as well as heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, left pulmonary isomerism, and malaligned sternal vertebra. Also observed were cystic kidneys and hydronephrosis. Airway cilia were hyperkinetic/dyskinetic