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b2b1963Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b1963Clo
Name: Mutant line 1963; Bench to Bassinet Program (B2B/CVDC), mutation 1963 Cecilia Lo
MGI ID: MGI:5467354
Synonyms: Fez
Gene: b2b1963Clo  Location: unknown  
Mutant 1963-002-3 (E16.5) exhibits a hypoplastic transverse arch and hypoplastic LV.

Show the 12 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Undefined
    This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, b2b1963Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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: 1 strain available      Cell Lines: 0 lines available
Carrying any b2b1963Clo Mutation:  1 strain or line available
Notes
Summative Diagnosis:
Cardiovascular phenotype: Hypoplastic left heart syndrome (HLHS), double outlet right ventricle (DORV), transverse arch hypoplasia, and hypoplastic left ventricle
Noncardiovascular phenotype: Cleft palate, micrognathia with recessed lower jaw, microphthalmia/anophthalmia, and exencephaly

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
0300 Hypoplastic left heart syndrome
0600 Double outlet right ventricle
1811 Hypoplastic left ventricle (subnormal cavity volume)
2704 Aortic arch hypoplasia
4163 Micrognathia
4864 Anophthalmia
4876 Cleft palate
4877 Microphthalmia
4906 Non-cardiac abnormality

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:  3 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
04/06/2021
MGI 6.16
The Jackson Laboratory