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Allele : b2b1625Clo Mutant line 1625; Bench to Bassinet Program (B2B/CVDC), mutation 1625 Cecilia Lo

Primary Identifier  MGI:5438060 Allele Type  Chemically induced (ENU)
Gene  b2b1625Clo Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  This ENU-induced mutation line 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 b2b1625.1Clo and b2b1625.2Clo

Summative Diagnosis:
Mutant Type 1:
Cardiac phenotype: Double outlet right ventricle (DORV)/overriding aorta (Ao), atrioventricular septal defect (AVSD)
Noncardiac phenotype: Anopthalmia, duplex kidneys

Mutant Type 2:
Cardiac phenotype: Persistent truncus arteriosus (PTA), aortic arch anomalies, vascular ring
Noncardiac phenotype: Agnathia, microstomia, holoprosencephaly, omphalocele, low set ears

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
0510 Truncus arteriosus type i
0600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
1432 Overriding aortic valve
4404 omphalocele
4864 Anophthalmia
2760 Vascular ring

molecularNote  This ENU-induced mutation line 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 b2b1625.1Clo and b2b1625.2Clo
  • mutations:
  • Undefined
  • synonyms:
  • Tupac,
  • Tupac
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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