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Allele : Plxnd1<b2b553Clo> plexin D1; Bench to Bassinet Program (B2B/CvDC), mutation 553 Cecilia Lo
Primary Identifier  MGI:5316780 Allele Type  Chemically induced (ENU)
Gene  Plxnd1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular defects: Persistent truncus arteriosus (PTA), double outlet right ventricle (DORV), atrio-ventricular septal defect (AVSD), right aortic arch (RAA), cystic atria and dual inferior vena cavae (IVC).
Non-cardiovascular defects: Glomerular cysts, kidney agenesis

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
0500 Truncus arteriosus
0510 Truncus arteriosus type i
0520 Truncus arteriosus type ii
0600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
2720 Right aortic arch
2810 Inferior vena cava anomaly
4503 Agenesis of kidneys

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 coding nucleotide 4727 in exon 27 of the cDNA (c.4727A>G, NM_026376). This changes the aspartic acid residue to glycine at position 1576 of the encoded protein (p.D1576G).
  • mutations:
  • Single point mutation
  • synonyms:
  • Sea Sponge,
  • Sea Sponge
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

5 Publication categories





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