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b2b2736Clo
Chemically induced Allele Detail
Summary
Symbol: b2b2736Clo
Name: Mutant line 2736; Bench to Bassinet Program (B2B/CVDC), mutation 2736 Cecilia Lo
MGI ID: MGI:5560813
Gene: b2b2736Clo  Location: unknown  
Alliance: b2b2736Clo page
Mutant 2736-005-LA shows heterotaxy with dextrocardia, right pulmonary isomerism (4R/4L), and left liver isomerism (2R/2L)

Show the 32 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 line was isolated in a screen at the University of Pittsburgh. More than one mutation in this line results in a discernible phenotype in a homozygous recessive screen. At least two segregating phenotype groups are identified. See Cfc1b2b2736.1Clo and b2b2736.2Clo (J:175213)
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
b2b2736Clo/b2b2736Clo
C57BL/6J-b2b2736Clo
 
Phenotypes:
Affected Systems
hm1
show or hide all annotated terms
 
cardiovascular system
√
abnormal aortic arch morphology
√
right aortic arch
√
vascular ring
√
abnormal left subclavian artery morphology
√
abnormal right subclavian artery morphology
√
persistent truncus arteriosus type i
√
d-loop transposition of the great arteries
√
total anomalous pulmonary venous connection, intracardiac
√
common atrium
√
superior-inferior ventricles
√
atrioventricular septal defect
√
ventricular septal defect
√
muscular ventricular septal defect
√
heart right ventricle hypoplasia
√
craniofacial
√
micrognathia
√
cleft palate
√
digestive/alimentary system
√
cleft palate
√
right-sided stomach
√
endocrine/exocrine glands
√
thymus hypoplasia
√
growth/size/body
√
cleft palate
√
heterotaxia
√
right-sided stomach
√
left-sided isomerism
√
right pulmonary isomerism
√
hematopoietic system
√
thymus hypoplasia
√
spleen hypoplasia
√
accessory spleen
√
immune system
√
thymus hypoplasia
√
spleen hypoplasia
√
accessory spleen
√
limbs/digits/tail
√
syndactyly
√
renal/urinary system
√
renal hypoplasia
√
respiratory system
√
right pulmonary isomerism
√
pulmonary hypoplasia
√
skeleton
√
micrognathia
√
vision/eye
√
microphthalmia
√
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: 14 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 b2b2736Clo Mutation:  1 strain or line available
Notes
Summative Diagnosis:
Mutant Type 1: Cardiovascular Phenotype: Complex congenital heart defects associated with heterotaxy, such as dextroversion with transposition of the great arteries (TGA), unbalanced atrioventricular ventricular septal defect (AVSD), muscular ventricular septal defects (mVSD), hypoplastic right ventricle (RV), common atrium, right aortic arch (RAA), right atrial isomerism, aberrant right subclavian artery, bilateral patent ductus arteriosus (PDA) forming vascular ring, superior-inferior ventricles, and total anomalous pulmonary venous return (TAPVR, intracardiac type)
Noncardiovascular Phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, right bronchial isomerism, polysplenia, left liver isomerism, inverted liver lobation, malaligned sternal vertebra, and hypoplastic spleen

Mutant Type 2:
Cardiovascular Phenotype: Persistent truncus arteriosus (PTA, Type 1), atrioventricular ventricular septal defect (AVSD), right aortic arch (RAA), and aberrant left subclavian artery forming vascular ring
Noncardiovascular Phenotype: growth retardation, microphthalmia, syndactyly, micrognathia, cleft palate, hypoplastic kidneys, lungs, and thymus

Phenotypic Similarity to Human Syndrome:
Mutant Type 1: Heterotaxy

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
1100 Atrioventricular canal (endocardial cushion defect)
2700 Abnormal aortic arch
2760 Vascular ring
4906 Non-cardiac abnormality
0184 Superior-inferior ventricles (upstairs-downstairs ventricles)
0190 Heterotaxy Syndrome
0700 D-loop transposition of the great arteries
1140 Common atrium
1300 Ventricular septal defect
1320 Ventricular septal defect, muscular
1821 Hypoplastic right ventricle (subnormal cavity volume)
2731 Aberrant right subclavian artery
4100 Skeletal, skin, muscle anomaly
4240 Right bronchial isomerism
4907 Non-cardiac thoracic abnormality
0510 Truncus arteriosus type i
2720 Right aortic arch
2730 Aberrant left subclavian artery
4170 Hand and/or foot anomaly
4174 Syndactyly

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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Send questions and comments to User Support. 		last database update
12/10/2024
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