This Bicc1 (bicaudal C homolog 1 (Drosophila)) recessive mutation was identified in a screen of ENU-induced mutations and may be useful in studies of ciliary dyskinesia, visceral heterotaxy and polycystic kidney 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.10048T->C Bicc1 (bicaudal C homolog 1 (Drosophila)) recessive 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 described here. Because G1 sperm were cryopreserved, additional ENU mutations are also segregating in this strain.
Homozygotes demonstrate laterality defects, including situs inversus totalis, and heterotaxy. Congenital heart disease (CHD) is marked by double outlet right ventricle (DORV)/transposition of the great arteries (TGA), atrioventricular septal defects (AVSD), and an interrupted aortic arch (IAA). Polycystic kidney disease, as well as pancreatic, choleductal, and gonadal cysts are also found.
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.10048T->C mutation in the Bicc1 gene was discovered through whole exome, high throughput sequencing (RefSeq NM_031397.2). The mutation is in an intron near a splice site and is predicted to result in the deletion of 17 amino acids in the encoded protein.
|Allele Name||Bench to Bassinet Program (B2B/CVDC), mutation 222 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||Bicc1c.606+2TC; Destro|
|Gene Symbol and Name||Bicc1, BicC family RNA binding protein 1|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis|
Cardiovascular defects: Situs inversus totalis, heterotaxy with congenital heart disease: Double outlet right ventricle (DORV), transposition of the great arteries (TGA), atrioventricular septal defects (AVSD), and interrupted aortic arch (IAA)
Non-cardiovascular defects: polycystic kidney disease, pancreatic cyst, choleduchal cyst, gonadal cyst