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Allele : Cplane2<b2b2804Clo> ciliogenesis and planar polarity effector 2; Bench to Bassinet Program (B2B/CVDC), mutation 2804 Cecilia Lo
Primary Identifier  MGI:5616147 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 phenotypes: Persistant truncus arteriosus (PTA), atrial ventricular septal defect (AVSD), common atrium, abnormal pulmonary artery branching, and duplicated inferior vena cava (IVC).

Noncardiovascular phenotype: Preaxial digit duplication, central polydactyly, micrognathia, and eye defects including anophthalmia and micophthalmia.

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
1100 Atrioventricular canal (endocardial cushion defect)
1140 Common atrium
2810 Inferior vena cava anomaly
4103 Polydactyly
4163 Micrognathia
4170 Hand and/or foot anomaly
4864 Anophthalmia
4877 Microphthalmia
4906 Non-cardiac abnormality
500 Truncus arteriosus

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at coding nucleotide 428 in exon 5 of the cDNA (c.428T>C, NM_001081174). This changes the phenylalanine residue to serine at position 143 of the encoded protein (p.F143S). 
  • 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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