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b2b012Clo
Chemically induced Allele Detail

Nomenclature
Symbol: b2b012Clo
Name: Mutant line 012; Bench to Bassinet Program (B2B/CVDC), mutation 012 Cecilia Lo
MGI ID: MGI:5297398
Synonyms: Heart Under Glass, Hug
Gene: b2b012Clo   Location: unknown    
Polydactyly

Show the 16 image(s) involving this allele.

Mutation
origin
Strain of Origin: C57BL/6J
Mutation
description
Allele Type:   Chemically induced (ENU)
Mutation:   Not Specified
    This ENU-induced mutation was isolated in a screen at the University of Pittsburgh.
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Find Mice (IMSR) Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation: Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any b2b012Clo Mutation: 1 strain or line available
Notes Summative Diagnosis
Cardiovascular defects: Double outlet right ventricle (DORV) {SDD}, Pulmonary atresia/hypolastic pulmonary artery (PA), Atrioventricular septal defect (AVSD), and Right aortic arch (RAA)
Non-cardiovascular defects: Cleft palate, polydactyly, sternal bone malalignment and hypoplasia, hypoplastic lungs, duplex and cystic kidney

Phenotypic Similarity to Human Syndrome: Joubert Syndrome in homozygous mice

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
0602 DORV, ventricular defect committed to aorta
1000 Pulmonary atresia congenital
1120 Complete common atrioventricular canal
1140 Common atrium
2720 Right aortic arch
2966 Hypoplastic main pulmonary artery
3804 Congenital heart disease
4100 Skeletal, skin, muscle anomaly
4103 Polydactyly
4876 Cleft palate
4906 Non-cardiac abnormality

References
Original: J:175213 Lo C, "Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program" MGI Direct Data Submission (B2B/CvDC) 2011;():
All: 1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/05/2013
MGI 5.13
The Jackson Laboratory