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Allele : Cplane2<b2b2827Clo> ciliogenesis and planar polarity effector 2; Bench to Bassinet Program (B2B/CVDC), mutation 2827 Cecilia Lo
Primary Identifier  MGI:5560911 Allele Type  Chemically induced (ENU)
Gene  Cplane2 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular Phenotype: Heterotaxy with complex congenital heart anomalies such as dextrocardia, superior-inferior ventricles, pulmonary atresia, persistant truncus arteriosus (PTA), atrioventricular septal defect (AVSD), and common atrium, right aortic arch (RAA), and juxtaposition of atria
Noncardiovascular Phenotype: Preaxial and central polydactyly, cleft lip, micrognathia, as well as hypoplastic lungs and thymus. Also presented with tracheoesophageal anomalies such as tracheoesophageal fistula, absent trachea, and lungs connected to esophagus.

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
0110 Dextrocardia
0190 Heterotaxy syndrome
0500 Truncus arteriosus
1100 Atrioventricular canal (endocardial cushion defect)
1140 Common atrium
4103 Polydactyly
4163 Micrognathia
4170 Hand and/or foot anomaly
4202 Tracheoesophageal fistula
4875 Cleft lip
4906 Non-cardiac abnormality

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 112 (c.112+1G>A, NM_001081174) in intron 1. This changes splice donor site G-GT to G-AT (which is assumed to be inactive).
  • 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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