This Dnaha5 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
Laura Reinholdt, The Jackson Laboratory
A T-to-A point mutation in a splice junction of Dnah5 (dynein, axonemal, heavy chain 5) 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 dextrocardia associated with situs inversus totalis and heterotaxy with dual inferior vena cava (IVC). 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 single point mutation at a splice junction was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause a truncation of the encoded protein (splice-10).
|Allele Name||Bench to Bassinet Program (B2B/CVDC), mutation 1537 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:|
Cardiac phenotype: Dextrocardia associated with situs inversus totalis and heterotaxy with dual inferior vena cava (IVC)
Noncardiac phenotype: Abnormal thoracic and abdominal organ situs anomalies such as inverted liver and lung lobation. Also observed were immotile airway cilia