b2b2059Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b2059Clo
• Name: Mutant line 2059; Bench to Bassinet Program (B2B/CVDC), mutation 2059 Cecilia Lo
• MGI ID: MGI:5491238
• Synonyms: Morse
• Gene: b2b2059Clo Location: unknown
• Alliance: b2b2059Clo page

Mutant 2059-013-NA exhibits heterotaxy with left lung isomerism (1R/1L), midline IVC, and DORV, which are all confirmed by EFIC imaging

Show the 34 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
• This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, b2b2059Clo, 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: 0 strains available Cell Lines: 0 lines available
• Carrying any b2b2059Clo Mutation: 0 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular Phenotype: Mutants can have dextracardia and complex congenital heart defects associated with heterotaxy, such as ambiguous atria (left atrial isomerism), transposition of the great arteries (TGA), overriding aorta/double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), biventricular hypertrophy, and inferior vena cava (IVC) anomalies, including dual inferior vena cava
Noncardiovascular Phenotype: Situs inversus totalis, as well as heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as different combinations with dextrogastria, hypoplastic spleen, left lung isomerism, malaligned sternal vertebras. Kidney cyst and tracheal airway cilia are slow/dyskinetic/immotile.

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 Code ID	Code Description
0190	Heterotaxy syndrome
0600	Double outlet right ventricle
0606	DORV + AVSD (AV canal)
0700	D-loop transposition of the great arteries
1100	Atrioventricular canal (endocardial cushion defect)
1432	Overriding aortic valve
2810	Inferior vena cava anomaly
4100	Skeletal, skin, muscle anomaly
4239	Left bronchial isomerism
4508	Polycystic kidney disease
4906	Non-cardiac abnormality
7505	Biventricular hypertrophy

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)