This Cep110 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 point mutation at position 1886 of the Cep110 (centrosomal protein 110) 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 double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), ventricular septal defects (VSD), and hypoplastic right heart syndrome. Cystic kidney and hydronephrosis are also seen. This strain may be useful as a model of nephronophthisis, Meckel Gruber Syndrome, or Hypoplastic Right Heart Syndrome (HRHS).
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 single point mutation at position 1886 of the cDNA (c.T1886C, NM_012018) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause isoleucine to threonine amino acid substitution at position 1629 of the encoded protein (p.I1629T).
|Allele Name||Bench to Bassinet Program (B2B/CVDC), mutation 1468, subline 1 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||Cep110b2b1468.1Clo; Hunchback|
|Gene Symbol and Name||Cntrl, centriolin|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis:|
Cardiovascular phenotypes: Double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), ventricular septal defects (VSD)
Noncardiovascular phenotype: Cystic kidney, tubular dilations, hydroureter, and hydronephrosis
Phenotypic Similarity to Human Syndrome: