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b2b2012Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b2012Clo
Name: Mutant line 2012; Bench to Bassinet Program (B2B/CVDC), mutation 2012 Cecilia Lo
MGI ID: MGI:5491231
Synonyms: Cyclops
Gene: b2b2012Clo  Location: unknown  
Mutant has parallel outflow tracts indicating possible double outlet right ventricle (DORV), which was confirmed by ECM histopathology.

Show the 24 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Undefined
 
Mutation detailsThis 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.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 7 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any b2b2012Clo Mutation:  0 strains or lines available
Notes
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

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory