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Allele : b2b1117Clo Mutant line 1117; Bench to Bassinet Program (B2B/CVDC), mutation 1117 Cecilia Lo

Primary Identifier  MGI:5437730 Allele Type  Chemically induced (ENU)
Gene  b2b1117Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Mutant Type 1:
Cardiac phenotype: Pulmonary atresia, ventricular septal defect (VSD) and major aortopulmonary collateral arteries (MAPCA)
Noncardiac phenotype: Facial cleft, micrognathia

Mutant Type 2:
Cardiac phenotype: Biventricular 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
1000 Pulmonary atresia congenital
1300 Ventricular septal defect
2771 Multiple major aortopulmonary collateral arteries (mapcas)
4163 Micrognathia
7504 Biventricular 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 b2b1117.1Clo and b2b1117.2Clo
  • synonyms:
  • Argh,
  • Argh
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele