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Allele : Cep290<b2b1752Clo> centrosomal protein 290; Bench to Bassinet Program (B2B/CVDC), mutation 1752 Cecilia Lo
Primary Identifier  MGI:5438068 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 (CHD) associated with heterotaxy with transposition of the great arteries (TGA), atrioventricular septal defect (AVSD)
Noncardiac phenotype: Left bronchial isomerism, hypoplastic spleen

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
0720 D-loop TGA with ventricular septal defect
1100 Atrioventricular canal (endocardial cushion defect)
2050 Atrial septal defect
3804 Congenital heart disease
4239 Left bronchial isomerism

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at nucleotide +2 following coding nucleotide 1189 (c.1189+2T>C, NM_146009) in intron 13. This changes splice donor site G-GT to G-GC (which is assumed to be less efficient).
  • mutations:
  • Single point mutation
  • synonyms:
  • Beyonce,
  • Beyonce
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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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