This Cep290 mutation was identified in a screen of ENU-induced mutations and may be useful in studies of heterotaxy, congenital heart disease, 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 T-to-A point mutation at position 4670 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 associated with heterotaxy such as doublet outlet right ventricle, atrioventricular septal defect, duplicated inferior vena cava (IVC), and hypoplastic spleen/polysplenia. Cystic kidney with tubular and glomerular cysts, open eyes, and micrognathia 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 4670 of the cDNA (c.T4670A, NM_146009) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause a leucine to stop codon substitution at position 1557 of the encoded protein (p.L1557X).
|Allele Name||Bench to Bassinet Program (B2B/CVDC), mutation 1454 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||Cep290c.T4670A; Checkers|
|Gene Symbol and Name||Cep290, centrosomal protein 290|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis:|
Cardiac phenotype: Congenital heart disease associated with heterotaxy such as doublet outlet right ventricle, atrioventricular septal defect, duplicated inferior vena cava (IVC), and hypoplastic spleen/polysplenia
Noncardiac phenotype: Cystic kidney tubular and glomerular cysts. Open eyes, micrognathia