This undefined mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease and lung 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 undefined mutation 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 cardiovascular defects that involve situs inversus totalis, heterotaxy with congenital heart disease, double outlet right ventricle (DORV) and perimembranous ventricular septal defect (VSD). Dyskinetic, slow, or immotile airway cilia are also seen.
This undefined mutation, identified in an ENU screen for recessive cardiovascular development phenotypes, was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program.
|Allele Name||Bench to Bassinet Program (B2B/CVDC), mutation 643 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Armc4, armadillo repeat containing 4|
|Gene Synonym(s)||4930463I21Rik; 4930463I21Rik; CILD23; Mutant line 227.1; Mutant line 643; RIKEN cDNA 4930463I21 gene; b2b227.1Clo; b2b227.1Clo; b2b643Clo; b2b643Clo; ddx5-ps1|
|Strain of Origin||C57BL/6J|
|General Note|| Summative Diagnosis:|
Cardiovascular phenotype: Dextrocardia and congenital heart disease associated with situs inversus totalis and heterotaxy, such as double outlet right ventricle (DORV), ventricular septal defects (VSD), right aortic arch(RAA), dual inferior vena cava (IVC)
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, pulmonary isomerism, and malaligned sternal vertebra. Airway cilia were dyskinetic, slow, or immotile
Phenotypic Similarity to Human Syndrome: Heterotaxy, Primary Ciliary Dyskinesia (PCD), Kartagener syndrome