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Chemically induced Allele Detail
Symbol: b2b386Clo
Name: Mutant line 386; Bench to Bassinet Program (B2B/CVDC), mutation 386 Cecilia Lo
MGI ID: MGI:5297423
Synonyms: chibi
Gene: b2b386Clo  Location: unknown  Genetic Position: ChrUN, Syntenic
Mutant 386-005-1 presents with an anterior aorta which is diagnosed as DORV by EFIC imaging

Show the 27 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
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 b2b386.1Clo and b2b386.2Clo. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, b2b386Clo, and may be present in stocks carrying this mutation.
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 12 anatomical structures
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 b2b386Clo Mutation:  1 strain or line available
Summative Diagnosis:
Cardiovascular phenotype:
Mutant 1: 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
Mutant 2: Interrupted aortic arch (IAA)

Non-cardiac phenotype:
Mutant 1: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, left lung isomerism, liver isomerism, and asplenia
Mutant 2: Micrognathia, cleft palate, hypoplastic thymus, malaligned sternal vertebra, as well as duplex and hydronephrotic kidneys

Phenotypic Similarity to Human Syndrome:
Mutant 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 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
1250 Interrupted aortic arch
2700 Abnormal aortic arch
4100 Skeletal, skin, muscle anomaly
4163 Micrognathia
4447 Hepatic malformation
4502 Hydronephrosis
4512 Renal malformation
4876 Cleft palate

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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