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b2b386.1Clo
Chemically induced Allele Detail
Summary
Symbol: b2b386.1Clo
Name: Mutant line 386.1 Cecilia Lo; Bench to Bassinet Program (B2B/CVDC), mutation 386.1 Cecilia Lo
MGI ID: MGI:5605963
Synonyms: chibi
Gene: b2b386.1Clo  Location: unknown  
Alliance: b2b386.1Clo page
Mutant 386-005-1 presents with an anterior aorta which is diagnosed as DORV by EFIC imaging

Show the 20 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 details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b386Clo.
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes √ phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
hm1  Disease Model
b2b386.1Clo/b2b386.1Clo
C57BL/6J-b2b386.1Clo
 
Phenotypes:
Affected Systems
hm1
show or hide all annotated terms
 
cardiovascular system
√
coronary fistula
√
abnormal inferior vena cava morphology
√
myocardial hypertrabeculation
√
double outlet right ventricle
√
double outlet right ventricle with atrioventricular septal defect
√
common atrium
√
atrioventricular septal defect
√
ventricular septal defect
√
growth/size/body
√
heterotaxia
√
abdominal situs ambiguus
√
left pulmonary isomerism
√
hematopoietic system
√
absent spleen
√
immune system
√
absent spleen
√
muscle
√
myocardial hypertrabeculation
√
respiratory system
√
left pulmonary isomerism
√
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
√ disease model   expected model not found
Models:
Human Diseases
hm1
IDs
 √
Expression
In Structures Affected by this Mutation: 5 anatomical structure(s)
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 b2b386.1Clo Mutation:  1 strain or line available
Notes
Summative Diagnosis:
Cardiovascular phenotype:
Cardiovascular phenotype: Heterotaxy with congenital heart disease (CHD): Double outlet right ventricle (DORV), atrioventricular (AVSD), common atrium, and ventricular septal defects (VSD), dual/bilateral inferior vena cava (IVC), coronary fistula, and ventricular non-compaction

Non-cardiac phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, left lung isomerism, liver isomerism, and asplenia


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
190 Heterotaxy syndrome
606 DORV + AVSD (AV canal)
1100 Atrioventricular canal (endocardial cushion defect)
1140 Common atrium
1300 Ventricular septal defect
1802 Excessive myocardial trabeculation or noncompaction
2230 Coronary fistula (arterio-venous or arterio-cameral)
2810 Inferior vena cava anomaly
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4239 Left bronchial isomerism
4771 Asplenia
600 Double outlet right ventricle

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). 2011-09-12;
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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Funding Information
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory