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Allele : b2b635Clo Mutant line 635; Bench to Bassinet Program (B2B/CVDC), mutation 635 Cecilia Lo
Primary Identifier  MGI:5311367 Allele Type  Chemically induced (ENU)
Gene  b2b635Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular defects: Hypoplastic left ventricle, hypoplastic aortic valve and mitral valve, ascending aorta hypoplasia.
Non-cardiovascular defects: Micrognathia and kinked tail

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
0300 Hypoplastic left heart syndrome
1400 Aortic valve abnormality
1515 Hypoplastic mitral valve
1811 Hypoplastic left ventricle (subnormal cavity volume)
2703 Hypoplasia ascending aorta
4163 Micrognathia

molecularNote  This ENU-induced phenotypic deviant was isolated in a screen at the University of Pittsburgh and point mutations were found in Nadsyn1, Pepd, Exco1, Pcdha9, and Sap130, of which the point mutations in Pcdha9 and Sap130 were found to cause the phenotype of hypoplastic left heart syndrome. See Pcdha9b2b635.1Clo and Sap130b2b635.2Clo.
  • mutations:
  • Undefined
  • synonyms:
  • Ohia,
  • Ohia
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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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Trail: Allele




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