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Allele : Cplane1<b2b012Clo> ciliogenesis and planar polarity effector 1; Bench to Bassinet Program (B2B/CVDC), mutation 012 Cecilia Lo
Primary Identifier  MGI:5297398 Allele Type  Chemically induced (ENU)
Gene  Cplane1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular defects: Double outlet right ventricle (DORV) {S,D,D}, pulmonary atresia/hypolastic pulmonary artery (PA), atrioventricular septal defect (AVSD), right aortic arch (RAA), and abnormal coronary vein
Non-cardiovascular defects: Cleft lip and palate, polydactyly, sternal bone malalignment and hypoplasia, hypoplastic lungs, micrognathia, duplex and cystic kidney

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
0600 Double outlet right ventricle
0602 DORV, ventricular defect committed to aorta
1000 Pulmonary atresia congenital
1100 Atrioventricular canal (endocardial cushion defect)
2720 Right aortic arch
2966 Hypoplastic main pulmonary artery
3804 Congenital heart disease
3950 {S,D,D}
4100 Skeletal, skin, muscle anomaly
4103 Polydactyly
4163 Micrognathia
4401 Cleft palate and 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 T to C substitution at coding nucleotide 757 in exon 8 of the cDNA (c.757T>C, NM_001162906). This changes the serine residue to proline at position 253 of the encoded protein (p.S253P).
  • mutations:
  • Single point mutation
  • synonyms:
  • Heart Under Glass,
  • Jbts<hug>,
  • Heart Under Glass,
  • Jbts17<Hug>,
  • Jbts17<Hug>,
  • Jbts<hug>,
  • Hug,
  • Hug
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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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