This mutation was identified in a screen of ENU-induced mutations and may be useful in studies of cardiac development, 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 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 heterotaxy and situs inversus totalis with left pulmonary isomerism, hypoplastic spleen/asplenia, and abnormal bilateral inferior vena cava (IVC). Malaligned sternovertebrae and dyskinetic/immotile respiratory cilia are also seen.
This 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 1660 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Ap1b1, adaptor protein complex AP-1, beta 1 subunit|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis:|
Laterality defect phenotypes: Heterotaxy and situs inversus totalis with left pulmonary isomerism, hypoplastic spleen/asplenia, abnormal bilateral inferior vena cava (IVC)
Noncardiac phenotype: Malaligned sternovertebrae, dyskinetic/immotile respiratory cilia