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Allele : b2b2350Clo Mutant line 2350; Bench to Bassinet Program (B2B/CVDC), mutation 2350 Cecilia Lo
Primary Identifier  MGI:5491275 Allele Type  Chemically induced (ENU)
Gene  b2b2350Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular Phenotype: Dextrocardia and dextroversion and complex congenital heart defects associated with heterotaxy, such as superior-inferior ventricles, anterior positioning of the aorta, double outlet right ventricle (DORV), DORV with anterior positioning of the aorta (DORV, Taussig Bing subtype), and atrioventricular septal defect (AVSD), right aortic arch (RAA), double aortic arch, dual inferior vena cava (IVC), ventricular non-compaction. Also observed are mutants with situs inversus totatlis without congenital heart defects.

Noncardiovascular Phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as left pulmonary isomerism, some mutant fetuses exhibited absent sternal vertebrae or ribs, few with hydronephrosis and cystic kidneys

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
0100 Situs inversus totalis
0110 Dextrocardia
0184 Superior-inferior ventricles (upstairs-downstairs ventricles)
0190 Heterotaxy syndrome
0600 Double outlet right ventricle
0610 DORV, Taussig bing
1100 Atrioventricular canal (endocardial cushion defect)
1802 Excessive myocardial trabeculation or noncompaction
2700 Abnormal aortic arch
2720 Right aortic arch
2761 Double aortic arch
2810 Inferior vena cava anomaly
4100 Skeletal, skin, muscle anomaly
4239 Left bronchial isomerism
4502 Hydronephrosis
4606 DORV + AVSD (AV canal)
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh.
  • mutations:
  • Undefined
  • synonyms:
  • Hugdos,
  • Hugdos
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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Trail: Allele




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