b2b811Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b811Clo
• Name: Mutant line 811 Cecilia Lo; Bench to Bassinet Program (B2B/CVDC), mutation 811 Cecilia Lo
• MGI ID: MGI:5696169
• Synonyms: Shar-pei
• Gene: b2b811Clo Location: unknown
• Alliance: b2b811Clo page

Mutant 811-058-LB exhibits inverted outflow that is diagnosed with overriding aorta by EFIC imaging

Show the 21 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 Dyx1c1^b2b811.1Clo and b2b811.2Clo.

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

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 b2b811Clo Mutation: 0 strains or lines available

Notes

Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotypes: Dextrocardia and complex congenital heart disease associated with heterotaxy, including transposition of the great arteries (TGA), overriding aorta, atrioventricular (AVSD) and ventricular septal defects (VSD), right atrial isomerism (RAI), coronary fistula, ventricular non-compaction, and inverted hemiazygous connection. Also observed are mutants with situs inversus totalis without congenital heart defects

Noncardiovascular phenotype: Situs inversus totalis as well as abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, inverted liver and lung lobation, and malaligned sternal vertebra. Airway cilia are immotile


Mutant Type 2:
Cardiovascular phenotypes: Biventricular hypertrophy with perimembranous ventricular septal defect (VSD)

Phenotypic Similarity to Human Syndrome:
Mutant Type 1:
Heterotaxy

Primary Ciliary Dyskinesia (PCD)



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
1300	Ventricular septal defect
1310	Ventricular septal defect, membranous
3804	Congenital heart disease
100	Situs inversus totalis
1100	Atrioventricular canal (endocardial cushion defect)
1320	Ventricular septal defect, muscular
1432	Overriding aortic valve
1802	Excessive myocardial trabeculation or noncompaction
190	Heterotaxy Syndrome
2230	Coronary fistula (arterio-venous or arterio-cameral)
3817	Abdominal situs ambiguous (abdominal heterotaxy)
3974	{I,L,I}
4100	Skeletal, skin, muscle anomaly
4851	Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
700	D-loop transposition of the great arteries

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: 1 reference(s)