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Allele : b2b1117.1Clo Mutant line 1117.1; Bench to Bassinet Program (B2B/CVDC), mutation 1117, subline 1 Cecilia Lo
Primary Identifier  MGI:5437731 Allele Type  Chemically induced (ENU)
Gene  b2b1117.1Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  This mutation was derived from the parent line b2b1117Clo.

Summative Diagnosis:
Mutant Type 1:
Cardiac phenotype: Pulmonary atresia, ventricular septal defect (VSD) and major aortopulmonary collateral arteries (MAPCA)
Noncardiac phenotype: Facial cleft, micrognathia

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

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1117Clo. The molecular lesion is in the Kif15 gene.
  • mutations:
  • Single point mutation
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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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