b2b508Clo
Chemically induced Allele Detail

Summary

• Symbol: b2b508Clo
• Name: Mutant line 508; Bench to Bassinet Program (B2B/CVDC), mutation 508 Cecilia Lo
• MGI ID: MGI:5313714
• Synonyms: Manatee
• Gene: b2b508Clo Location: unknown
• Alliance: b2b508Clo page

Mutant 508-004-NL exhibits malalignment of the great arteries with blood congested atria and inferior vena cava (IVC).

Show the 19 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 b2b508.1Clo and b2b508.2Clo.

Expression

In Structures Affected by this Mutation:

4 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 b2b508Clo Mutation: 1 strain or line available

Notes

Summative Diagnosis:
Mutant Phenotype I: Cardiac defects: DORV, AVSD, VSD. Noncardiac defects: Microcephaly, micrognathia, anopthalmia.
Mutant Phenotype II: Cardiac defects: VSD Noncardiac defects: Anencephaly, anopthalmia, hypoplasia of the oral cavity, micrognathia, holosprosencephaly

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
0600	Double outlet right ventricle
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
4163	Micrognathia
4310	Microcephaly
4332	Anencephaly
4338	Holoprosencephaly
4864	Anophthalmia

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)