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Allele : b2b2696Clo Mutant line 2696; Bench to Bassinet Program (B2B/CVDC), mutation 2696 Cecilia Lo

Primary Identifier  MGI:5620185 Allele Type  Chemically induced (ENU)
Gene  b2b2696Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotypes: Complex congenital heart defects associated with heterotaxy, dextrocardia, double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), muscular ventricular septal defect (VSD), total anomalous pulmonary venous return (TAPVR), dual inferior vena cava (IVC), and ventricular myocardial non-compaction.

Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, right-sided pancreas, asplenia, and gut malrotation.


Mutant Type 2:
Cardiovascular phenotypes: Atrioventricular septal defect (AVSD), left ventricular hypertrophy, right sided aortic arch, vascular ring and other aortic arch anomalies

Noncardiovascular phenotype: Craniofacial defects including micrognathia, midline facial cleft, bilateral anopthalmia, low set ears, hypoplastic thymus, renal anomalies including duplex kidneys and hydroureter

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
110 Dextrocardia
600 Double outlet right ventricle
900 Totally anomalous pulmonary venous return
1100 Atrioventricular canal (endocardial cushion defect)
1320 Ventricular septal defect, muscular
1802 Excessive myocardial trabeculation or noncompaction
190 Heterotaxy Syndrome
2810 Inferior vena cava anomaly
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4407 Intestinal malrotation
4771 Asplenia

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 b2b2696.1Clo and b2b2696.2Clo.
  • mutations:
  • Undefined
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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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0 Driven By

3 Publication categories

Trail: Allele