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Allele : Ephb4<b2b2412Clo> Eph receptor B4; Bench to Bassinet Program (B2B/CVDC), mutation 2412 Cecilia Lo
Primary Identifier  MGI:5614904 Allele Type  Chemically induced (ENU)
Gene  Ephb4 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotype: Overriding aorta, perimembranous ventricular septal defect (VSD), hypoplastic pulmonary artery (PA), and aortic arch anomalies.

Noncardiovascular phenotype: Cystic kidneys and hydronephrosis.

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
1310 Ventricular septal defect, membranous
1432 Overriding aortic valve
1610 Pulmonary stenosis
2760 Vascular ring
4508 Polycystic kidney disease
4906 Non-cardiac abnormality

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 1541 in exon 8 of the cDNA (c.1541T>C, NM_001159571). This changes the valine residue to alanine at position 514 of the encoded protein (p.V514A).
  • mutations:
  • Undefined
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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4 Publication categories





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