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b2b3077.2Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b3077.2Clo
Name: Mutant line 3077, subline 2 Cecilia Lo; Bench to Bassinet Program (B2B/CVDC), mutation 3077, subline 2 Cecilia Lo
MGI ID: MGI:5646614
Synonyms: Po
Gene: b2b3077.2Clo  Location: unknown  
Mutant 3077-006-4 (E15.5) exhibits aortic atresia with accessory anterior lung lobes, hypoplastic left atrium, and thickened left ventricle wall. This is diagnosed as aortic atresia, left venricle hypertrophy, and hypoplastic left heart syndrome (HLHS) spectrum heart by ECM histopathology.

Show the 10 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. It is a subline of b2b3077Clo. (J:175213)
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: 15 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 b2b3077.2Clo Mutation:  0 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular phenotypes: Hypoplastic left ventricle (LV), aortic atresia, and hypoplastic mitral, phenotypes consistent with hypoplastic left heart syndrome (HLHS).

Noncardiovascular phenotype: Severe craniofacial defect with short snout, micrognathia, cleft lip and palate, hypoplastic thymus, hypoplastic and accessory anterior lung lobes, renal anomalies, short gut, club limbs, bobtail, and syndatcyly.


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
1811 Hypoplastic left ventricle (subnormal cavity volume)
4163 Micrognathia
4170 Hand and/or foot anomaly
4174 Syndactyly
4401 Cleft palate and cleft lip
4512 Renal malformation
4875 Cleft lip
4876 Cleft palate
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality
300 Hypoplastic left heart syndrome
320 Aortic atresia
1515 Hypoplastic mitral valve

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
11/05/2019
MGI 6.14
The Jackson Laboratory