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Allele : Plxnd1<b2b3150Clo> plexin D1; Bench to Bassinet Program (B2B/CVDC), mutation 3150 Cecilia Lo
Primary Identifier  MGI:5648017 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 phenotypes: Congenital heart defects including persistent truncus arteriosus (PTA), atrioventricular septal defect (AVSD), common atrium, ventricular septal defect (VSD), right aortic arch (RAA),aberrant subclavian artery forming incomplete vascular ring.

Noncardiovascular phenotype: Kidney agenesis, hyoplastic thymus, micrognathia, short snout, cleft palate.

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
500 Truncus arteriosus
1100 Atrioventricular canal (endocardial cushion defect)
1140 Common atrium
1300 Ventricular septal defect
2720 Right aortic arch
2730 Aberrant left subclavian artery
2760 Vascular ring
4163 Micrognathia
4503 Agenesis of kidneys
4610 DiGeorge syndrome
4876 Cleft palate
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 4445 in exon 25 of the cDNA (c.4445T>A, NM_026376). This changes the methionine residue to lysine at position 1482 of the encoded protein (p.M1482K).
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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0 Driven By

5 Publication categories





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