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Allele : b2b2012Clo Mutant line 2012; Bench to Bassinet Program (B2B/CVDC), mutation 2012 Cecilia Lo
Primary Identifier  MGI:5491231 Allele Type  Chemically induced (ENU)
Gene  b2b2012Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotypes: Double outlet right ventricle (DORV) with ventricular septal defect (VSD), and atrioventricular septal defect (AVSD).

Noncardiovascular phenotype: Craniofacial defects including short snout, micropthalmia, anophthalmia and micrognathia.
Mutant Type 2:
Cardiovascular phenotypes: Biventricular hypertrophy, Right aortic arch (RAA)

Noncardiovascular phenotype: Craniofacial defects including micrognathia, anopthalmia, cyclopia, astomia, holoprosencephaly

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 Codes Code Description
4163 Micrognathia
4864 Anophthalmia
4877 Microphthalmia
600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
2720 Right aortic arch
4338 Holoprosencephay
7505 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 b2b2012.1Clo and b2b2012.2Clo.
  • mutations:
  • Undefined
  • synonyms:
  • Cyclops,
  • Cyclops
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories





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