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Allele : b2b1801Clo Mutant line 1801; Bench to Bassinet Program (B2B/CVDC), mutation 1801 Cecilia Lo
Primary Identifier  MGI:5446159 Allele Type  Chemically induced (ENU)
Gene  b2b1801Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotype: Complex congenital heart defects associated with heterotaxy, such as transposition of the great arteries (TGA), double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), right atrial isomerism with duplicated inferior vena cava (IVC), inverted hemiazygous venous connection with left sided hepatic vein connecting to the left side atrium, perimembranous ventricular septal defect (VSD), and inverted liver.
Noncardiac phenotype: situs inversus, right pulmonary isomerism, hemizygous venous connection
Mutant Type 2:
Cardiovascular phenotype: Double outlet right ventricle (DORV)/overriding aorta (Ao), hypoplastic aortic arch, subaortic ventricular septal defect (VSD), and muscular ventricular septal defect (mVSD)

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
1300 Ventricular septal defect
1432 Overriding aortic valve
0110 Dextrocardia
0190 Heterotaxy syndrome
1100 Atrioventricular canal (endocardial cushion defect)
2810 Inferior vena cava anomaly
3950 {S,D,D}
3973 {I,L,L}
4240 Right bronchial isomerism
4447 Hepatic malformation
0600 Double outlet right ventricle
1200 Coarctation
0800 L-loop transpostion of the great arteries
1310 Ventricular septal defect, membranous
3804 Congenital heart disease
1320 Ventricular septal defect, muscular
1432 Overriding aortic valve

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. More than one mutation in this line results in a discernible phenotype in a homozygous recessive screen. At least two segregating phenotype groups are identified. See b2b1801.1Clo and b2b1801.2Clo
  • synonyms:
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Trail: Allele

Genome

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0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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