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Chemically induced Allele Detail
Symbol: Cep290b2b1454Clo
Name: centrosomal protein 290; Bench to Bassinet Program (B2B/CVDC), mutation 1454 Cecilia Lo
MGI ID: MGI:5437082
Synonyms: Cep290c.T4670A, Checkers
Gene: Cep290  Location: Chr10:100488289-100573655 bp, + strand  Genetic Position: Chr10, 51.48 cM
Mutant 1754-003-NA displays malpositioning of the IVC, aortic arch hypoplasia and malpositiong of the OFT confirmed to be DORV by EFIC imaging

Show the 15 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T-to-A single point mutation at position 4670 of the cDNA (c.T4670A, NM_146009) that is predicted to cause a leucine to stop codon substitution at position 1557 of the encoded protein (p.L1557X). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cep290b2b1454Clo, and may be present in stocks carrying this mutation.
View phenotypes for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Cep290 Mutation:  53 strains or lines available
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

Phenotypic Similarity to Human Syndrome: Heterotaxy, Polycystic kidney disease

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID Code Description
0190 Heterotaxy Syndrome
0192 Polysplenia syndrome (left isomerism)
0600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
1340 Ventricular septal defect, ECD type
2810 Inferior vena cava anomaly
3804 Congenital heart disease
3983 {A,D,D}
4163 Micrognathia
4508 Polycystic kidney disease

Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.04
The Jackson Laboratory