This Cep290 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-C substitution at nucleotide +2 of an intron following nucleotide 1189 of the Cep290 (centrosomal protein 290) 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 congenital heart disease (CHD) associated with heterotaxy with transposition of the great arteries (TGA), and atrioventricular septal defect (AVSD). Left bronchial isomerism and a hypoplastic spleen 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-C substitution at nucleotide +2 of an intron following cDNA nucleotide 1189 (c.1189+2T>C, NM_146009) is a presumed splicing mutation.
|Allele Name||Bench to Bassinet Program (B2B/CVDC), mutation 1752 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Cep290, centrosomal protein 290|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis:|
Cardiac Phenotype: Congenital heart disease (CHD) associated with heterotaxy with transposition of the great arteries (TGA), atrioventricular septal defect (AVSD)
Noncardiac phenotype: Left bronchial isomerism, hypoplastic spleen