This single T701A point mutation in Dync2h1 (dynein cytoplasmic 2 heavy chain 1) cDNA was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease and 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 single T701A point mutation in Dync2h1 (dynein cytoplasmic 2 heavy chain 1) 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 here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate pulmonary atresia with ventricular septal defect (VSD), atrioventricular septal defect (AVSD), major aortopulmonary collateral arteries (MAPCA), coronary fistula, dual inferior vena cavae (IVC), and a single lung lobe. Micrognathia, hypotelorism, duplex kidney, polydactyly, syndactyly, oligodactyly, tracheoesphageal fistula (TEF), kidney agenesis, eye malformation, and mouth malformation 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 position 701 of the cDNA (c.T701A) was discovered through whole exome, high throughput sequencing after in an ENU screen for recessive cardiovascular development phenotypes. This change is predicted to result in a valine to glutamate change at position 234 of the encoded protein (p.V234E).
|Allele Name||Bench to Bassinet Program (B2B/CVDC), mutation 414 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||Dync2h1p.V234E; Lucifer|
|Gene Symbol and Name||Dync2h1, dynein cytoplasmic 2 heavy chain 1|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis: |
Mutant Phenotype 1: Cardiovascular defects: Pulmonary atresia with ventricular septal defect (VSD), atrioventricular septal defect (AVSD), major aortopulmonary collateral arteries (MAPCA), coronary fistula, dual inferior vena cavae (IVC) and single lung lobe. Non-cardiovascular defects: Micrognathia, hypotelorism, duplex kidney, polydactyly/syndactyly/oligodactyly, and tracheoesphageal fistula (TEF).
Mutant Phenotype 2: Kidney agenesis, craniofacial anomalies.