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b2b2966Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b2966Clo
Name: Mutant line 2966 Cecilia Lo; Bench to Bassinet Program (B2B/CVDC), mutation 2966 Cecilia Lo
MGI ID: MGI:5646292
Gene: b2b2966Clo  Location: unknown  
Mutant 2966-005-2 (E15.5) displays heterotaxy with mesocardia and left lung isomerism.

Show the 30 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. 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 Lama5b2b2966.1Clo and Adamts6b2b2966.2Clo. (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: 21 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 b2b2966Clo Mutation:  0 strains or lines available
Notes
Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotypes: Mesocardia, double outlet right ventricle (DORV)/overriding aorta, ventricular septal defects (VSDs), atrioventricular septal defect (AVSD), persistent truncus arteriosus (PTA), hypoplastic pulmonary artery (PA), and aortic arch anomalies including interrupted aortic arch (IAA), right aortic arch (RAA), and aberrant right subclavian artery forming incomplete vascular ring.

Noncardiovascular phenotype: Exencephaly, syndactyly, runted, curly tail, single/hypoplastic thymus, low-set ears, left lung isomerism, kidney cysts and tubular dilation, kidney agenesis, and eye defects such as anophthalmia and microphthalmia.


Mutant Type 2:
Cardiovascular phenotypes: Overriding aorta/Double outlet right ventricle (DORV) with ventricular septal defects (subaortic, perimembranous, and muscular), atrioventricular septal defects (AVSD), and biventricular hypertrophy.

Noncardiovascular phenotype: Abnormal flexure of the hindlimbs, hydrops, midline fusion defect of the sternal vertebra, hypoplastic thymus, short snout, and cleft palate.

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
1050 Tetralogy of Fallot
1300 Ventricular septal defect
1610 Pulmonary stenosis
2731 Aberrant right subclavian artery
2760 Vascular ring
4170 Hand and/or foot anomaly
4174 Syndactyly
4239 Left bronchial isomerism
4503 Agenesis of kidneys
4864 Anophthalmia
4877 Microphthalmia
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality
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). 2011-15;
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
01/14/2020
MGI 6.14
The Jackson Laboratory