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b2b1723Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b1723Clo
Name: Mutant line 1723; Bench to Bassinet Program (B2B/CVDC), mutation 1723 Cecilia Lo
MGI ID: MGI:5442116
Synonyms: Pugface
Gene: b2b1723Clo  Location: unknown  
Mutant 1723-007-NC shows craniofacial anomaly and mircognathia

Show the 11 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
    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, b2b1723Clo, 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: 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 b2b1723Clo Mutation:  1 strain or line available
Notes
Summative Diagnosis:
Cardiac phenotype: Malalignment of the great arteries such as overriding aorta (Ao) and double outlet right ventricle (DORV), coronary fistula, and biventricular hypertrophy
Non-Cardiac phenotype: Craniofacial anomalies including cleft palate and micrognathia

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
1432 Overriding aortic valve
2230 Coronary fistula (arterio-venous or arterio-cameral)
4163 Micrognathia
4876 Cleft palate
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
11/12/2019
MGI 6.14
The Jackson Laboratory