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Allele : b2b508Clo Mutant line 508; Bench to Bassinet Program (B2B/CVDC), mutation 508 Cecilia Lo
Primary Identifier  MGI:5313714 Allele Type  Chemically induced (ENU)
Gene  b2b508Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Mutant Phenotype I: Cardiac defects: DORV, AVSD, VSD. Noncardiac defects: Microcephaly, micrognathia, anopthalmia.
Mutant Phenotype II: Cardiac defects: VSD Noncardiac defects: Anencephaly, anopthalmia, hypoplasia of the oral cavity, micrognathia, holosprosencephaly

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
0600 Double outlet right ventricle
0606 DORV + AVSD (AV canal)
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
4163 Micrognathia
4310 Microcephaly
4332 Anencephaly
4338 Holoprosencephaly
4864 Anophthalmia

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 b2b508.1Clo and b2b508.2Clo.
  • mutations:
  • Undefined
  • synonyms:
  • Manatee,
  • Manatee
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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

3 Publication categories





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