This Ap2b1 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 T-to-A point mutation at position 5503 of the Ap2b1 (adaptor-related protein complex 2, beta 1 subunit) 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 overriding aorta/double outlet right ventricle (DORV, Taussig-Bing subtype) with atrioventricular septal defect (AVSD), perimembranous ventricular septal defect (VSD), right aortic arch (RAA), and ventricular hypertrophy. Micrognathia, cleft palate, and hypoplastic thymus 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 1343 of the cDNA (c.T1343A, NM_027915) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause a methionine to lysine amino acid substitution at position 448 of the encoded protein (p.M448K).
|Allele Name||Bench to Bassinet Program (B2B/CVDC), mutation 2321 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Ap2b1, adaptor-related protein complex 2, beta 1 subunit|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis:|
Cardiovascular phenotype: Overriding aorta/double outlet right ventricle (DORV, Taussig-Bing subtype) with atrioventricular septal defect (AVSD), perimembranous ventricular septal defect (VSD), right aortic arch (RAA), and ventricular hypertrophy
Noncardiovascular phenotype: Micrognathia, cleft palate, and hypoplastic thymus