This Dnah5 mutation was identified in a screen of ENU-induced mutations and may be useful in studies of heterotaxy and congenital heart disease. The phenotype is similar to that of human Primary Ciliary Dyskinesia, Kartagener's syndrome, and Heterotaxy.
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 (c.438+2T-A) in 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 situs inversus totalis and heterotaxy with abdominal situs ambiguous and congenital heart disease (CDH) that includes dextrocardia wih double outlet right ventricle (DORV) and atrioventricular septal defect (AVSD). Immotile airway cilia with an outer dynein arm defect are also seen. The phenotype is similar to that of human Primary Ciliary Dyskinesia, Kartagener's syndrome, and Heterotaxy.
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- point mutation (c.438+2T-A) in Dnah5 was discovered through whole exome, high throughput sequencing (c.438+2T-A).
|Allele Name||Bench to Bassinet Program (B2B/CVDC), mutation 601 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 defect: Situs inversus totalis and heterotaxy with abdominal situs ambigous and congenital heart disease: Dextrocardia with double outlet right ventricle (DORV) and atrioventricular septal defect (AVSD).
Non-cardiovascular defect: Immotile airway cilia with outer dynein arm defect.