This Dnah5 (dynein, axonemal, heavy chain 5) recessive mutation was identified in a screen of ENU-induced mutations and may be a useful in studies of heart and kidney development.
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 c.10048T->C Dnah5 (dynein, axonemal, heavy chain 5) recessive mutation was identified in a recessive ENU screen for 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 here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate laterality defects including situs inversus and heterotaxy. Congenital heart disease (CHD) is marked by double outlet right ventricle (DORV)/aortic override (AO), atrioventricular septal defects (AVSD) and likely other structural heart defects. Slow ciliary motility in the tracheal airway with some areas of immotility, and duplex/duplicated kidneys 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 c.10048T->C mutation in the Dnah5 gene was discovered through whole exome, high throughput sequencing (RefSeq NM_133365). This mutation is predicted to result in a serine to proline substitution at codon 3350 of the expressed protein.
|Allele Name||Bench to Bassinet Program (B2B/CVDC), mutation 016 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Dnah5, dynein, axonemal, heavy chain 5|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis|
Cardiovascular phenotype: Situs inversus and heterotaxy with complex congenital heart disease such as dextrocardia, double outlet right ventricle (DORV), and ventricular (VSD) and atrioventricular septal defect (AVSD)
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, inverted liver and lung lobation, and malaligned sternal vertebra. Tracheal airway show slow ciliary motility, with some regions of immotility.