b2b1625Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b1625Clo
• Name: Mutant line 1625; Bench to Bassinet Program (B2B/CVDC), mutation 1625 Cecilia Lo
• MGI ID: MGI:5438060
• Synonyms: Tupac
• Gene: b2b1625Clo Location: unknown
• Alliance: b2b1625Clo page

Mutant 1625-002-NB displays malpositioning of the great arteries which was confirmed to be overriding aorta by EFIC imaging

Show the 20 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 line 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 b2b1625.1Clo and b2b1625.2Clo (J:175213)

Expression

In Structures Affected by this Mutation:

2 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 b2b1625Clo Mutation: 1 strain or line available

Notes

This ENU-induced mutation line 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 b2b1625.1Clo and b2b1625.2Clo

Summative Diagnosis:
Mutant Type 1:
Cardiac phenotype: Double outlet right ventricle (DORV)/overriding aorta (Ao), atrioventricular septal defect (AVSD)
Noncardiac phenotype: Anopthalmia, duplex kidneys

Mutant Type 2:
Cardiac phenotype: Persistent truncus arteriosus (PTA), aortic arch anomalies, vascular ring
Noncardiac phenotype: Agnathia, microstomia, holoprosencephaly, omphalocele, low set ears

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
0510	Truncus arteriosus type i
0600	Double outlet right ventricle
1100	Atrioventricular canal (endocardial cushion defect)
1432	Overriding aortic valve
4404	omphalocele
4864	Anophthalmia
2760	Vascular ring

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)