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b2b1554Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b1554Clo
Name: Mutant line 1554; Bench to Bassinet Program (B2B/CVDC), mutation 1554 Cecilia Lo
MGI ID: MGI:5437079
Synonyms: Marshmellow
Gene: b2b1554Clo  Location: unknown  
Mutant 1554-004-1 (E14.5) exhibits gastroschisis with liver and gut outside the abdominal cavity (celoschisis)

Show the 21 image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Undefined
    This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. (J:175213)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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 b2b1554Clo Mutation:  1 strain or line available
Notes
Summative Diagnosis:
Cardiac phenotype: Outflow tract anomalies including pulmonary stenosis (PS) and persistent truncus arteriosus (PTA), atrioventricular septal defects (AVSD)
Noncardiac phenotype: Body wall closure defects - gastroschisis/celoschisis/omphalocele, diaphragmatic hernia

Phenotypic Similarity to Human Syndrome: Diaphragmatic hernia, gastroschisis, celoschisis, omphalocele

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
0500 Truncus arteriosus
1100 Atrioventricular canal (endocardial cushion defect)
1610 Pulmonary stenosis
3950 {S,D,D}
4404 Omphalocele
4414 Gastroschisis

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). 2011-13;
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
04/08/2014
MGI 5.17
The Jackson Laboratory