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Allele : Evl<b2b2600Clo> Ena-vasodilator stimulated phosphoprotein; Bench to Bassinet Program (B2B/CVDC) mutation 2600, Cecilia Lo
Primary Identifier  MGI:5560907 Allele Type  Chemically induced (ENU)
Gene  Evl Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular Phenotype: Double outlet right ventricle (DORV), DORV with sub aortic VSD, atroventricular septal defects (AVSD).

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
0600 Double outlet right ventricle
0606 DORV + AVSD (AV canal)
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
1802 Excessive myocardial trabeculation or noncompaction
4906 Non-cardiac abnormality

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at nucleotide +9 after coding nucleotide 1144 (c.1144+9A>G, NM_007965) in intron 12. This may affect splicing from the nearby splice donor site.
  • mutations:
  • Undefined
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Trail: Allele

Genome

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0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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