Pdgfrb^b2b2903Clo
Chemically induced Allele Detail

Summary

• Symbol: Pdgfrb^b2b2903Clo
• Name: platelet derived growth factor receptor, beta polypeptide; Bench to Bassinet Program (B2B/CVDC), mutation 2903 Cecilia Lo
• MGI ID: MGI:5618619
• Gene: Pdgfrb Location: Chr18:61178222-61218133 bp, + strand Genetic Position: Chr18, 34.41 cM
• Alliance: Pdgfrb^b2b2903Clo page

This image is from the Laboratory of Dr. Cecilia Lo, a member of the Cardiovascular Development Consortium (CvDC), Bench to Bassinet (B2B) program of the National Heart Lung and Blood Institute (NHLBI), and is displayed with the permission of the authors.

Show the 29 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: 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). (J:175213)

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pdgfrb Mutation: 87 strains or lines available

Notes

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

References

• 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). 2011-09-12
• All: 2 reference(s)