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Allele : b2b1163Clo Mutant line 1163; Bench to Bassinet Program (B2B/CVDC), mutation 1163 Cecilia Lo
Primary Identifier  MGI:5433408 Allele Type  Chemically induced (ENU)
Gene  b2b1163Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Mutant Type 1: Cardiac defects: Congenital heart disease associated with heterotaxy such as double outlet right ventricle (DORV) with interrupted aortic arch, atrioventricular septal defect (AVSD), and hypoplastic right ventricle (RV)
Noncardiac defects: Highly cystic kidneys with tubule cysts
Mutant Type 2: Cardiac defects: Ventricular hypertrophy

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
1100 Atrioventricular canal (endocardial cushion defect)
1821 Hypoplastic right ventricle (subnormal cavity volume)
0190 Heterotaxy Syndrome
3804 Congenital heart disease
3950 {S,D,D}
4508 Polycystic kidney disease
0600 Double outlet right ventricle
3608 Left ventricular hypertrophy
3609 Right ventricular hypertrophy

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 b2b1163.1Clo and b2b1163.2Clo
  • synonyms:
  • Goober,
  • Goober
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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2 Carried By

0 Driven By

3 Publication categories





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