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Allele : Cep290<b2b1454Clo> centrosomal protein 290; Bench to Bassinet Program (B2B/CVDC), mutation 1454 Cecilia Lo
Primary Identifier  MGI:5437082 Allele Type  Chemically induced (ENU)
Gene  Cep290 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  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
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

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 4670 in exon 34 of the cDNA (c.4670T>A, NM_146009). This changes the leucine residue to a translation stop at position 1557 of the encoded protein (p.L1557*).
  • mutations:
  • Single point mutation
  • synonyms:
  • Cep290<c.T4670A>,
  • Cep290<c.T4670A>,
  • Checkers,
  • Checkers
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

5 Publication categories





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