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b2b508Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b508Clo
Name: Mutant line 508; Bench to Bassinet Program (B2B/CVDC), mutation 508 Cecilia Lo
MGI ID: MGI:5313714
Synonyms: Manatee
Gene: b2b508Clo  Location: unknown  
Mutant 508-004-NL exhibits malalignment of the great arteries with blood congested atria and inferior vena cava (IVC).

Show the 19 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 b2b508.1Clo and b2b508.2Clo.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 anatomical structures
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 b2b508Clo Mutation:  1 strain or line available
Notes
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

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