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Allele : Pdgfrb<b2b2903Clo> platelet derived growth factor receptor, beta polypeptide; Bench to Bassinet Program (B2B/CVDC), mutation 2903 Cecilia Lo
Primary Identifier  MGI:5618619 Allele Type  Chemically induced (ENU)
Gene  Pdgfrb Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotypes: Double outlet right ventricle (DORV), overriding aorta with hypoplastic pulmonary artery (PA) - Tetrology of Fallot (TOF), atrioventricular septal defect (AVSD), muscular (mVSD) and perimembranous ventricular septal defects (pmVSD), and aortic arch anomalies including right aortic arch and vascular ring.

Noncardiovascular phenotype: Hypoplastic thymus, petechiae craniofacial defects including short snout and micrognathia, clinodactyly.

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 Codes Code Description
1050 Tetralogy of Fallot
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
1310 Ventricular septal defect, membranous
1320 Ventricular septal defect, muscular
1432 Overriding aortic valve
1610 Pulmonary stenosis
2720 Right aortic arch
2730 Aberrant left subclavian artery
2760 Vascular ring
4100 Skeletal, skin, muscle anomaly
4163 Micrognathia
4906 Non-cardiac abnormality
600 Double outlet right ventricle

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 coding nucleotide 2498 in exon 18 of the cDNA (c.2498T>C, NM_001146268). this changes the leucine residue to proline at position 833 of the encoded protein (p.L833P).
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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