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b2b1702Clo
Chemically induced Allele Detail
Nomenclature
Symbol: b2b1702Clo
Name: Mutant line 1702, Cecilia Lo; Bench to Bassinet Program (B2B/CVDC), mutation 1702 Cecilia Lo
MGI ID: MGI:5696518
Synonyms: TLC
Gene: b2b1702Clo  Location: unknown  
Mutant 1702-003-2 (E16.5) displays malaligned great arteries indicative of double outlet right ventricle (DORV) as confirmed by ECM imaging.

Show the 19 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:    Single point mutation
 
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 Cml5b2b1702.1Clo and Megf8b2b1702.2Clo (J:175213)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 13 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 b2b1702Clo Mutation:  0 strains or lines available
Notes
Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotypes: Congenital heart disease associated with with heterotaxy, including dextrocardia, double outlet right ventricle (DORV), Taussig-Bing type DORV, muscular VSD (mVSD), atrioventricular septal defects (AVSD), and coronary fistula

Noncardiovascular phenotype: Dextrogastria, right lung isomerism, omphalocele, gastroschisis


Mutant Type 2:
Cardiovascular phenotypes: Heterotaxy with complex congenital heart disease such as transposition of the great arteries (TGA;{SDD}) and dextrocardia with double outlet right ventricle (DORV;{ILL}).

Noncardiovascular phenotype: anophthalmia, short snout, micrognathia, cleft palate

Phenotypic Similarity to Human Syndrome:
Mutant Type 1:
Heterotaxy


Mutant Type 2:
Carpenter's syndrome



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
602 DORV, ventricular defect committed to aorta
110 Dextrocardia
1100 Atrioventricular canal (endocardial cushion defect)
1320 Ventricular septal defect, muscular
190 Heterotaxy Syndrome
2230 Coronary fistula (arterio-venous or arterio-cameral)
3804 Congenital heart disease
4404 Omphalocele
600 Double outlet right ventricle
610 DORV, Taussig bing

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:  1 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
12/03/2019
MGI 6.14
The Jackson Laboratory