This Dnah11 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
This C-to-T point mutation at position 2755 of the Dnah11 (dynein, axonemal, heavy chain 11) 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 described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate situs inversus totalis and heterotaxy with congenital heart disease. Duplex kidneys with kidney cysts are also seen. Tracheal airway cilia are mostly immotile with some displaying hyperkinetic beat.
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-to-T single point mutation at position 2755 of the cDNA (c.C10243T, NM_010060) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause a glutamine to a stop codon substitution at position 919 of the encoded protein (p.Q3415X).
|Allele Name||Bench to Bassinet Program (B2B/CVDC) mutation 1203, 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 and heterotaxy with congenital heart disease, such as dextrocardia, dual inferior vena cava (IVC), and right aortic arch (RAA)
Noncardiovascular phenotype: Situs inversus totalis as well as abnormal thoracic and abdominal organ situs anomalies associated with heterotaxy, such as dextrogastria, inverted lung lobation, and inverted liver lobation. Also observed were duplex kidneys with kidney cysts. Tracheal airway cilia are mostly immotile with some displaying hyperkinetic beat