b2b386Clo
Chemically induced Allele Detail

Summary

• 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
• Alliance: b2b386Clo page

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.

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. 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.

Disease models

Expression

In Structures Affected by this Mutation:

10 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 b2b386Clo Mutation: 1 strain or line available

Notes

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

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)