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Allele : Dvl3<b2b2866Clo> dishevelled segment polarity protein 3; Bench to Bassinet Program (B2B/CVDC), mutation 2866 Cecilia Lo
Primary Identifier  MGI:5618437 Allele Type  Chemically induced (ENU)
Gene  Dvl3 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) with subaortic ventricular septal defect (VSD), cushion like semilunar valves.

Noncardiovascular phenotype: Micrognathia, short snout, enopthalmia, hypoplastic thymus, hydronephrosis and moderate cystic kidney.

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
0602 DORV, ventricular defect committed to aorta
4163 Micrognathia
4502 Hydronephrosis
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 A substitution at coding nucleotide 1412 in exon 13 of the cDNA (c.1412T>A, NM_007889). This changes the leucine residue to glutamine at position 471 of the encoded protein (p.L471Q). 
  • mutations:
  • Undefined
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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4 Publication categories





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