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Allele : b2b1200Clo Mutant line 1200; Bench to Bassinet Program (B2B/CVDC), mutation 1200 Cecilia Lo
Primary Identifier  MGI:5437101 Allele Type  Chemically induced (ENU)
Gene  b2b1200Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Mutant Type 1:
Cardiovascular defects: Heterotaxy with congenital heart disease such as dextroversion with hypoplastic right ventricle (RV), double outlet right ventricle (DORV), muscular and membranous ventricular septal defects, aortic arch anomalies including vascular ring
Non-cardiovascular defects: Duplex kidneys with cysts and hydronephrosis

Mutant Type 2:
Cardiac phenotype: Biventricular hypertrophy
Noncardiac phenotype: Cystic kidney, duplex/multiplex kidney, and hydronephrosis

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
0190 Heterotaxy Syndrome
0600 Double outlet right ventricle
1310 Ventricular septal defect, membranous
1320 Ventricular septal defect, muscular
1821 Hypoplastic right ventricle (subnormal cavity volume)
2704 Aortic arch hypoplasia
2760 Vascular ring
3804 Congenital heart disease
3953 {S,D,S}
4502 Hydronephrosis
4508 Polycystic kidney disease
7504 Biventricular hypertrophy

molecularNote  This ENU-induced mutation line 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 b2b1200.1Clo and b2b1200.2Clo.
  • synonyms:
  • Bruiser,
  • Bruiser
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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

4 Publication categories





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