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Allele : Plxnd1<b2b1863Clo> plexin D1; Bench to Bassinet Program (B2B/CVDC), mutation 1863 Cecilia Lo
Primary Identifier  MGI:5476170 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Plxnd1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular Phenotype: Persistent Truncus Arteriosus (PTA) with ambiguos atrial situs, double outlet right ventricle (DORV), right aortic arch (RAA), duplicated inferior vena cava (IVC), atrioventricular septal defect (AVSD)
Noncardiovascular Phenotype: Hypoplastic/abnormal thymus, cleft palate, duplex kidney, 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
0521 Truncus arteriosus type iia
0600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
2720 Right aortic arch
2810 Inferior vena cava anomaly
4503 Agenesis of kidney
4610 DiGeorge syndrome
4876 Cleft palate

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G to A substitution at nucleotide +1 after coding nucleotide 2691 (c.2691+1G>A, NM_026376) in intron 12. This changes splice donor site G-GT to G-AT (which is assumed to be inactive).
  • mutations:
  • Single point mutation
  • synonyms:
  • Snowman,
  • Snowman
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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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