b2b2012Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b2012Clo
• Name: Mutant line 2012; Bench to Bassinet Program (B2B/CVDC), mutation 2012 Cecilia Lo
• MGI ID: MGI:5491231
• Synonyms: Cyclops
• Gene: b2b2012Clo Location: unknown
• Alliance: b2b2012Clo page

Mutant has parallel outflow tracts indicating possible double outlet right ventricle (DORV), which was confirmed by ECM histopathology.

Show the 24 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 b2b2012.1Clo and b2b2012.2Clo.

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 b2b2012Clo Mutation: 0 strains or lines available

Notes

Summative Diagnosis:
Mutant Type 1:
Cardiovascular phenotypes: Double outlet right ventricle (DORV) with ventricular septal defect (VSD), and atrioventricular septal defect (AVSD).

Noncardiovascular phenotype: Craniofacial defects including short snout, micropthalmia, anophthalmia and micrognathia.
Mutant Type 2:
Cardiovascular phenotypes: Biventricular hypertrophy, Right aortic arch (RAA)

Noncardiovascular phenotype: Craniofacial defects including micrognathia, anopthalmia, cyclopia, astomia, holoprosencephaly

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
4163	Micrognathia
4864	Anophthalmia
4877	Microphthalmia
600	Double outlet right ventricle
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
2720	Right aortic arch
4338	Holoprosencephay
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)